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  • 1-10 of  54 results for ""Amino Acid Metabolism, Inborn Errors""
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Academic Journal

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.

  • Authors : Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute.; Sysol JR

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/complications ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/metabolism Methylmalonic acidemia

  • Source: JCI insight [JCI Insight] 2024 Feb 22; Vol. 9 (4). Date of Electronic Publication: 2024 Feb 22.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Academic Journal

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

  • Authors : Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Sysol JR

Subjects: Hormesis* ; Stress, Physiological*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism Methylmalonic acidemia

  • Source: JCI insight [JCI Insight] 2018 Dec 06; Vol. 3 (23). Date of Electronic Publication: 2018 Dec 06.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model:

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Academic Journal

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.

  • Authors : Zinnanti WJ; Jake Gittlen Cancer Research Foundation, Department of Pathology, Penn State College of Medicine, Hershey, Pennsylvania 17033, USA. ; Lazovic J

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diet therapy ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/pathology ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/physiopathology

  • Source: The Journal of clinical investigation [J Clin Invest] 2007 Nov; Vol. 117 (11), pp. 3258-70.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance.

  • Authors : Kamada Y; Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University, Osaka, Japan.; Nagaretani H

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*physiopathology ; Arginine/Arginine/Arginine/*deficiency ; Endothelium, Vascular/Endothelium, Vascular/Endothelium, Vascular/*physiopathology

  • Source: The Journal of clinical investigation [J Clin Invest] 2001 Sep; Vol. 108 (5), pp. 717-24.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

An experiment of nature: genetic L-arginine deficiency and NO insufficiency.

  • Authors : Loscalzo J; Whitaker Cardiovascular Institute and Evans Department of Medicine, Boston University School of Medicine, 700 Albany Street, W507, Boston, Massachusetts 02118, USA.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*physiopathology ; Arginine/Arginine/Arginine/*deficiency ; Nitric Oxide/Nitric Oxide/Nitric Oxide/*metabolism

  • Source: The Journal of clinical investigation [J Clin Invest] 2001 Sep; Vol. 108 (5), pp. 663-4.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

  • Authors : Chamberlin ME; Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.; Ubagai T

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Brain Diseases/Brain Diseases/Brain Diseases/*enzymology ; Demyelinating Diseases/Demyelinating Diseases/Demyelinating Diseases/*enzymology

  • Source: The Journal of clinical investigation [J Clin Invest] 1996 Aug 15; Vol. 98 (4), pp. 1021-7.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Self-induced correction of the genetic defect in tyrosinemia type I.

  • Authors : Kvittingen EA; Institute of Clinical Biochemistry, University of Oslo Rikshospitalet, Norway.; Rootwelt H

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Hydrolases/Hydrolases/Hydrolases/*deficiency ; Liver/Liver/Liver/*enzymology

  • Source: The Journal of clinical investigation [J Clin Invest] 1994 Oct; Vol. 94 (4), pp. 1657-61.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.

Subjects: Peptide Biosynthesis*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; DNA/DNA/DNA/*genetics

  • Source: The Journal of clinical investigation [J Clin Invest] 1992 Nov; Vol. 90 (5), pp. 1679-86.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

  • Authors : Kure S; Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan.; Takayanagi M

Subjects: Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Glycine/Glycine/Glycine/*blood

  • Source: The Journal of clinical investigation [J Clin Invest] 1992 Jul; Vol. 90 (1), pp. 160-4.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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Academic Journal

Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.

  • Authors : Wilkemeyer MF; Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030.; Crane AM

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Methylmalonic Acid/Methylmalonic Acid/Methylmalonic Acid/*urine ; Methylmalonyl-CoA Mutase/Methylmalonyl-CoA Mutase/Methylmalonyl-CoA Mutase/*genetics

  • Source: The Journal of clinical investigation [J Clin Invest] 1991 Mar; Vol. 87 (3), pp. 915-8.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model:

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  • 1-10 of  54 results for ""Amino Acid Metabolism, Inborn Errors""