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Tytuł :
Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
Autorzy :
Matsukawa Y; Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-Cho, Otsu, Shiga, 520-2192, Japan.
Sakamoto K; Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-Cho, Otsu, Shiga, 520-2192, Japan. .
Ikeda Y; Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-Cho, Otsu, Shiga, 520-2192, Japan.
Taga T; Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-Cho, Otsu, Shiga, 520-2192, Japan.
Kosaki K; Center of Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Maruo Y; Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-Cho, Otsu, Shiga, 520-2192, Japan.
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Źródło :
International journal of hematology [Int J Hematol] 2022 Oct; Vol. 116 (4), pp. 635-638. Date of Electronic Publication: 2022 May 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/metabolism
Amino Acid Metabolism, Inborn Errors*/pathology
Lymphohistiocytosis, Hemophagocytic*/genetics
Adult ; Amino Acid Transport System y+L/genetics ; Exons ; Female ; Humans ; Lysine ; Mutation
SCR Disease Name :
Lysinuric Protein Intolerance
Czasopismo naukowe
Tytuł :
Novel AAV-mediated genome editing therapy improves health and survival in a mouse model of methylmalonic acidemia.
Autorzy :
Zhang S; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Bastille A; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Gordo S; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Ramesh N; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Vora J; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
McCarthy E; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Zhang X; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Frank D; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Ko CW; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Wu C; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Walsh N; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Amarwani S; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Liao J; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Xiong Q; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Drouin L; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Hebben M; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Chiang K; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
Chau BN; LogicBio Therapeutics Inc., Lexington, MA, United States of America.
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Źródło :
PloS one [PLoS One] 2022 Sep 20; Vol. 17 (9), pp. e0274774. Date of Electronic Publication: 2022 Sep 20 (Print Publication: 2022).
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/therapy
Methylmalonyl-CoA Mutase*/genetics
Methylmalonyl-CoA Mutase*/metabolism
Adult ; Albumins/genetics ; Animals ; Child ; Disease Models, Animal ; Gene Editing ; Humans ; Mice
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Eladocagene Exuparvovec: First Approval.
Autorzy :
Keam SJ; Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand. .
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Źródło :
Drugs [Drugs] 2022 Sep; Vol. 82 (13), pp. 1427-1432.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/therapy
Dopa Decarboxylase*
Amino Acids ; Aromatic-L-Amino-Acid Decarboxylases/deficiency ; Aromatic-L-Amino-Acid Decarboxylases/genetics ; Humans
SCR Disease Name :
Aromatic amino acid decarboxylase deficiency
Czasopismo naukowe
Tytuł :
NRF2 mediates melanoma addiction to GCDH by modulating apoptotic signalling.
Autorzy :
Verma S; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Crawford D; Cancer Data Science Lab (CDSL), National Cancer Institute, National Institute of Health, Bethesda, MD, USA.
Khateb A; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Feng Y; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Sergienko E; Conrad Prebys Center for Chemical Genomics, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Pathria G; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.; Genentech, San Francisco, CA, USA.
Ma CT; Conrad Prebys Center for Chemical Genomics, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Olson SH; Conrad Prebys Center for Chemical Genomics, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Scott D; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Murad R; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Ruppin E; Cancer Data Science Lab (CDSL), National Cancer Institute, National Institute of Health, Bethesda, MD, USA.
Jackson M; Conrad Prebys Center for Chemical Genomics, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Ronai ZA; Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA. .
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Źródło :
Nature cell biology [Nat Cell Biol] 2022 Sep; Vol. 24 (9), pp. 1422-1432. Date of Electronic Publication: 2022 Sep 01.
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/metabolism
Brain Diseases, Metabolic*/genetics
Brain Diseases, Metabolic*/metabolism
Brain Diseases, Metabolic*/pathology
Melanoma*/genetics
NF-E2-Related Factor 2/*metabolism
DNA ; Glutaryl-CoA Dehydrogenase/genetics ; Glutaryl-CoA Dehydrogenase/metabolism ; Humans ; Ketoglutarate Dehydrogenase Complex ; Lysine ; Mitochondrial Proteins ; NF-E2-Related Factor 2/genetics
Czasopismo naukowe
Tytuł :
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Autorzy :
Marelli C; Expert Centre for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases, University Hospital of Montpellier, Montpellier, France.; MMDN, University of Montpellier, Ecole Pratique des Hautes Etudes, Inserm, Montpellier, France.
Fouilhoux A; Reference Center for Inborn Error of Metabolism, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Benoist JF; Inserm UMR_S1163, Institut Imagine, Paris, France.; Biochemistry Department, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.
De Lonlay P; Necker Hospital, Assistance Publique - Hôpitaux de Paris, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France.
Guffon-Fouilhoux N; Reference Center for Inborn Error of Metabolism, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Brassier A; Necker Hospital, Assistance Publique - Hôpitaux de Paris, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France.
Cano A; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France.
Chabrol B; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France.
Pennisi A; Necker Hospital, Assistance Publique - Hôpitaux de Paris, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France.
Schiff M; Inserm UMR_S1163, Institut Imagine, Paris, France.; Necker Hospital, Assistance Publique - Hôpitaux de Paris, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France.
Acquaviva C; Center for Inherited Metabolic Disorders and Neonatal Screening, Est Biology and Pathology Department, Groupement Hospitalier Est (GHE), Hospices Civils de Lyon, Bron, France.
Murphy E; C. Dent Adult Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Servais A; Necker Hospital, Assistance Publique - Hôpitaux de Paris, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France.; Adult Nephrology and Transplantation Department, Hôpital Necker Enfants Malades, APHP, Paris, France.
Lachmann R; C. Dent Adult Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Sep; Vol. 45 (5), pp. 937-951. Date of Electronic Publication: 2022 Jun 23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/diagnosis
Amino Acid Metabolism, Inborn Errors*/therapy
Intellectual Disability*
Kidney Failure, Chronic*
Vitamin B 12 Deficiency*/complications
Vitamin B 12 Deficiency*/diagnosis
Vitamin B 12 Deficiency*/drug therapy
Adult ; Child ; Humans ; Methylmalonic Acid ; Retrospective Studies ; Vitamin B 12/therapeutic use ; Young Adult
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
Autorzy :
Venturoni LE; Metabolic Medicine Branch, Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Venditti CP; Metabolic Medicine Branch, Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Sep; Vol. 45 (5), pp. 872-888. Date of Electronic Publication: 2022 Jul 21.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/therapy
Methylmalonyl-CoA Mutase*
Dependovirus/genetics ; Genomics ; Humans ; Methylmalonic Acid
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Autorzy :
Chen Z; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Dong H; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Liu Y; Department of Pediatrics, Peking University People's Hospital, Beijing, 100034, China.
He R; Department of Respiratory Medicine II, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing, 100045, China.
Song J; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Jin Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Li M; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Liu Y; Department of Clinical Laboratory, China-Japan Friendship Hospital, Beijing, 100029, China.
Liu X; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Qi J; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Wang F; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Xiao H; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Zheng H; Department of Pediatrics, First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou, 450000, China.
Kang L; Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Li D; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, 450053, China.
Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. zy_.
Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. organic.acid@vip.126.com.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 02; Vol. 17 (1), pp. 330. Date of Electronic Publication: 2022 Sep 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Homocystinuria*/diagnosis
Vitamin B 12 Deficiency*/genetics
Adolescent ; Adult ; Betaine ; Carnitine ; Child ; Female ; Humans ; Infant ; Male ; Mutation/genetics ; Oxidoreductases/genetics ; Paraplegia ; Puberty ; Retrospective Studies ; Vitamin B 12 ; Young Adult
Czasopismo naukowe
Tytuł :
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Autorzy :
Staklinski SJ; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Chang MC; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Yu F; Department of Medicine, UF Health Cancer Center, University of Florida College of Medicine, Gainesville, Florida, USA.
Collins Ruff K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Franz DN; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Qian Z; Department of Medicine, UF Health Cancer Center, University of Florida College of Medicine, Gainesville, Florida, USA.
Bloom LB; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Merritt ME; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
McKenna R; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Kilberg MS; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA. Electronic address: .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2022 Sep; Vol. 298 (9), pp. 102385. Date of Electronic Publication: 2022 Aug 17.
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*
Aspartate-Ammonia Ligase*/chemistry
Intellectual Disability*/genetics
Microcephaly*/genetics
Neurodegenerative Diseases*
Adenosine Triphosphate ; Asparagine/genetics ; Atrophy ; HEK293 Cells ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9.
Autorzy :
Chen YM; Department of Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Chen W; Department of Radiology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Xu Y; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Lu CS; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Zhu MM; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Sun RY; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Wang Y; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Chen Y; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Shi J; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Wang D; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Sep; Vol. 10 (9), pp. e2010. Date of Electronic Publication: 2022 Jun 28.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/genetics
Succinate-CoA Ligases*/chemistry
Succinate-CoA Ligases*/genetics
DNA, Mitochondrial/genetics ; Humans ; Infant ; Mitochondria/genetics
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Correspondence.
Autorzy :
Menon J; Department of Pediatric Gastroenterology & Hepatology, Dr Rela Institute & Medical Centre, Bharat Institute of Higher Education and Research, Chennai, Tamil Nadu, 600044, India.
Shanmugam N; Department of Pediatric Gastroenterology & Hepatology, Dr Rela Institute & Medical Centre, Bharat Institute of Higher Education and Research, Chennai, Tamil Nadu, 600044, India. .
Rela M; Department of Hepatobiliary Surgery & Liver Transplantation, Dr Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
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Źródło :
Indian journal of pediatrics [Indian J Pediatr] 2022 Aug; Vol. 89 (8), pp. 839. Date of Electronic Publication: 2022 Jun 15.
Typ publikacji :
Letter
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*
Liver Transplantation*
Tyrosinemias*/surgery
Humans
Opinia redakcyjna
Tytuł :
Disturbance of Mitochondrial Dynamics, Endoplasmic Reticulum-Mitochondria Crosstalk, Redox Homeostasis, and Inflammatory Response in the Brain of Glutaryl-CoA Dehydrogenase-Deficient Mice: Neuroprotective Effects of Bezafibrate.
Autorzy :
Seminotti B; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Brondani M; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Ribeiro RT; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Leipnitz G; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.; Programa de Pós-Graduação em Fisiologia, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.; Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600, Prédio 21111, Porto Alegre, RS, 90035-003, Brazil.
Wajner M; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. .; Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600, Prédio 21111, Porto Alegre, RS, 90035-003, Brazil. .; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-007, Brazil. .
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Źródło :
Molecular neurobiology [Mol Neurobiol] 2022 Aug; Vol. 59 (8), pp. 4839-4853. Date of Electronic Publication: 2022 May 31.
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/metabolism
Neuroprotective Agents*/metabolism
Neuroprotective Agents*/pharmacology
Neuroprotective Agents*/therapeutic use
Animals ; Bezafibrate/pharmacology ; Brain/metabolism ; Brain Diseases, Metabolic ; Endoplasmic Reticulum/metabolism ; Glutaryl-CoA Dehydrogenase/deficiency ; Homeostasis ; Humans ; Mice ; Mice, Knockout ; Mitochondria/metabolism ; Mitochondrial Dynamics ; Oxidation-Reduction
SCR Disease Name :
Glutaric Acidemia I
Czasopismo naukowe
Tytuł :
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
Autorzy :
Zhao G; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Chen C
Zhao X
Liu L
Wang C
Kong X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Jul 10; Vol. 39 (7), pp. 694-697.
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/diagnosis
Amino Acid Metabolism, Inborn Errors*/genetics
Propionic Acidemia*/diagnosis
Propionic Acidemia*/genetics
Aged ; Child ; China ; Diagnosis, Differential ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Nucleocytoplasmic Transport Proteins/genetics ; Oxidoreductases/genetics ; Pedigree ; Solute Carrier Family 22 Member 5/genetics
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia.
Autorzy :
Agnarsdóttir D; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
Sigurjónsdóttir VK; Hringurinn, Childrens Hospital, Landspitali University Hospital, Reykjavik, Iceland.
Emilsdóttir AR; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
Petersen E; Department of Nutrition, Landspitali University Hospital, Reykjavik, Iceland.
Sigfússon G; Hringurinn, Childrens Hospital, Landspitali University Hospital, Reykjavik, Iceland.
Rögnvaldsson I; Hringurinn, Childrens Hospital, Landspitali University Hospital, Reykjavik, Iceland.
Franzson L; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Bjornsson HT; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jul; Vol. 10 (7), pp. e1971. Date of Electronic Publication: 2022 Jun 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/drug therapy
Amino Acid Metabolism, Inborn Errors*/genetics
Cardiomyopathies*/drug therapy
Cardiomyopathies*/genetics
Adaptor Proteins, Signal Transducing/genetics ; Female ; Humans ; Mutation ; Proto-Oncogene Proteins c-cbl/genetics
SCR Disease Name :
Methylmalonic acidemia; Methylmalonic aciduria cblB type
Czasopismo naukowe
Tytuł :
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Autorzy :
Matmat K; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France.
Guéant-Rodriguez RM; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France. .; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, 54000, Nancy, France. .
Oussalah A; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, 54000, Nancy, France.
Wiedemann-Fodé A; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France.
Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Coelho D; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France.
Guéant JL; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, 54000, Nancy, France.
Conart JB; UMR_S 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, INSERM, University of Lorraine, 54000, Nancy, France. .; Department of Ophthalmology, Nancy University Hospital, 54500, Vandœuvre-lès-Nancy, France. .
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Źródło :
Human genetics [Hum Genet] 2022 Jul; Vol. 141 (7), pp. 1239-1251. Date of Electronic Publication: 2021 Oct 15.
Typ publikacji :
Journal Article; Review; Systematic Review
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/complications
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/metabolism
Homocystinuria*/complications
Homocystinuria*/genetics
Macular Degeneration*
Retinal Degeneration*
Humans ; Methylmalonic Acid ; Mutation ; Retina/metabolism ; Vitamin B 12/metabolism
Czasopismo naukowe
Tytuł :
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Autorzy :
Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032, Zurich, Switzerland.
Plessl T; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032, Zurich, Switzerland.
Frei C; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032, Zurich, Switzerland.
Bürer C; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032, Zurich, Switzerland.
Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032, Zurich, Switzerland. .
Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, 8032, Zurich, Switzerland. .
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Źródło :
Human genetics [Hum Genet] 2022 Jul; Vol. 141 (7), pp. 1253-1267. Date of Electronic Publication: 2021 Nov 18.
Typ publikacji :
Journal Article
MeSH Terms :
Alkyl and Aryl Transferases*/metabolism
Amino Acid Metabolism, Inborn Errors*/genetics
Amino Acid Metabolism, Inborn Errors*/pathology
Adaptor Proteins, Signal Transducing/metabolism ; Adenosine Triphosphate/chemistry ; Adenosine Triphosphate/metabolism ; Alleles ; Humans ; Mutation ; Propionates ; Proto-Oncogene Proteins c-cbl/metabolism ; Vitamin B 12/metabolism
SCR Disease Name :
Methylmalonic acidemia; Methylmalonic aciduria cblB type
Czasopismo naukowe
Tytuł :
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia.
Autorzy :
Tang TY; The University of Texas MD Anderson Cancer, Division of Cancer Medicine, 1515 Holcombe Blvd, Unit 463 FC11.3055, Houston, TX 77030.
Cruz VB; DDC Clinic, 14567 Madison Road, Middlefield, OH, 44062.
Konczal LL; Case Western Reserve University School of Medicine, Department of Genetics and Genome Sciences, Cleveland, OH 44106; University Hospitals Case Medical Center, Center for Human Genetics, 11100 Euclid Ave, Lakeside 1500, Cleveland, OH 44106. Electronic address: .
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Źródło :
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2022 Jul; Vol. 21 (4), pp. 603-605. Date of Electronic Publication: 2021 Dec 30.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/complications
Amino Acid Metabolism, Inborn Errors*/drug therapy
Chloride Channel Agonists*/therapeutic use
Pancreatitis, Chronic*/complications
Pancreatitis, Chronic*/drug therapy
Aminophenols/therapeutic use ; Cystic Fibrosis/complications ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Female ; Humans ; Mutation ; Quinolones
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.
Autorzy :
Paria P; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Saini AG; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Attri S; Pediatric Biochemistry Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Kaur R; Pediatric Biochemistry Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Malhi P; Child Psychology Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Didwal G; Pediatric Biochemistry Division, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Kasinathan A; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Bhatia P; In-charge Pediatric Hematology & Pediatric Molecular Hematology Laboratory, Pediatric Hematology-Oncology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Sahu JK; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Suthar R; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Saini L; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Vyas S; Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Panigrahi I; Genetics & Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
Sankhyan N; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Jul; Vol. 39, pp. 49-58. Date of Electronic Publication: 2022 May 24.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/enzymology
Amino Acid Metabolism, Inborn Errors*/genetics
Brain Diseases, Metabolic*/enzymology
Brain Diseases, Metabolic*/genetics
Glutaryl-CoA Dehydrogenase*/chemistry
Glutaryl-CoA Dehydrogenase*/deficiency
Glutaryl-CoA Dehydrogenase*/genetics
Child ; Cross-Sectional Studies ; Humans ; Quality of Life
SCR Disease Name :
Glutaric Acidemia I
Czasopismo naukowe
Tytuł :
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
Autorzy :
He R; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. zy_; .
Mo R
Zhang Y
Shen M
Kang L
Chen Z
Liu Y
Song J
Zhang H
Yao H
Liu Y
Dong H
Jin Y
Li M
Qin J
Zheng H
Chen Y
Wei H
Li D
Li X
Zheng R
Zhang H
Huang M
Zhang C
Jiang Y
Liang D
Tian Y
Yang Y
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Jun 10; Vol. 39 (6), pp. 565-570.
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/diagnosis
Amino Acid Metabolism, Inborn Errors*/enzymology
Amino Acid Metabolism, Inborn Errors*/genetics
Hydrocephalus*/diagnosis
Hydrocephalus*/enzymology
Hydrocephalus*/genetics
Oxidoreductases*/genetics
Female ; Humans ; Mutation ; Phenotype ; Pregnancy ; Retrospective Studies ; Seizures/genetics
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Autorzy :
Waisbren SE; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .
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Źródło :
Metabolic brain disease [Metab Brain Dis] 2022 Jun; Vol. 37 (5), pp. 1317-1335. Date of Electronic Publication: 2022 Mar 29.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/diagnosis
Amino Acid Metabolism, Inborn Errors*/therapy
Methylmalonyl-CoA Mutase*/genetics
Child ; Humans ; Methylmalonic Acid/metabolism ; Mutation ; Quality of Life ; Vitamin B 12
SCR Disease Name :
Methylmalonic acidemia
Czasopismo naukowe
Tytuł :
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.
Autorzy :
Kacpura A; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.
Frigeni M; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.
Gunther K; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.
Farach L; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1831-1835. Date of Electronic Publication: 2022 Feb 14.
Typ publikacji :
Case Reports
MeSH Terms :
Amino Acid Metabolism, Inborn Errors*/diagnosis
Amino Acid Metabolism, Inborn Errors*/drug therapy
Vitamin B 12 Deficiency*/diagnosis
Vitamin B 12 Deficiency*/drug therapy
Female ; Humans ; Hydroxocobalamin/therapeutic use ; Infant, Newborn ; Methylmalonic Acid ; Muscle Hypotonia/drug therapy
Raport

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