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Academic Journal

Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria.

  • Authors : Chu X; Peking University First Hospital, Beijing, China.; Yan H

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/complications; Humans ; Basal Ganglia/Basal Ganglia/Basal Ganglia/diagnostic imagingMethylmalonic acidemia

  • Source: JAMA neurology [JAMA Neurol] 2024 Jan 01; Vol. 81 (1), pp. 81-82.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print

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Academic Journal

Elective Transplantation for MMA Patients: How Ought Patients' Needs for Organs to be Prioritized when Transplantation Is Not their Only Available Treatment?

  • Authors : Neidich AB; Resident in general surgery at Saint Louis University in St. Louis, Missouri.; Neidich E

Subjects: Ethical Theory* ; Kidney Transplantation*/Kidney Transplantation*/Kidney Transplantation*/ethics ; Kidney Transplantation*/Kidney Transplantation*/Kidney Transplantation*/legislation & jurisprudence Methylmalonic acidemia

  • Source: AMA journal of ethics [AMA J Ethics] 2016 Feb 01; Vol. 18 (2), pp. 153-5. Date of Electronic Publication: 2016 Feb 01.Publisher: American Medical Association Country of Publication: United States NLM ID: 101649265 Publication Model: Electronic

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Academic Journal

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

  • Authors : Holder JL Jr; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston.; Agadi S

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Mutation/Mutation/Mutation/*genetics ; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*genetics Sulfite oxidase deficiency

  • Source: JAMA neurology [JAMA Neurol] 2014 Jun; Vol. 71 (6), pp. 782-4.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print

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Academic Journal

Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy.

  • Authors : Wu C; Department of Neurology, Peking University Third Hospital, Beijing, China.; Sun Q

Subjects: Magnetic Resonance Imaging*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnostic imaging ; Leukodystrophy, Metachromatic/Leukodystrophy, Metachromatic/Leukodystrophy, Metachromatic/*diagnostic imagingMethylmalonic Aciduria and Homocystinuria, CblF Type

  • Source: JAMA neurology [JAMA Neurol] 2018 Mar 01; Vol. 75 (3), pp. 374-375.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print

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Academic Journal

State of the art of biochemical genetics.

  • Authors : Levy P; Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, La.; Shapira E

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; Lysosomal Storage Diseases/Lysosomal Storage Diseases/Lysosomal Storage Diseases/*genetics

  • Source: American journal of diseases of children (1960) [Am J Dis Child] 1993 Nov; Vol. 147 (11), pp. 1153-8.Publisher: American Medical Association Country of Publication: United States NLM ID: 0370471 Publication Model: Print Cited

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Academic Journal

Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.

  • Authors : Lo WD; Department of Pediatrics, Ohio State University, Children's Hospital, Columbus 43205.; Sloan HR

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Carbamoyl-Phosphate Synthase (Ammonia)/Carbamoyl-Phosphate Synthase (Ammonia)/Carbamoyl-Phosphate Synthase (Ammonia)/*metabolism; Adolescent

  • Source: American journal of diseases of children (1960) [Am J Dis Child] 1993 Mar; Vol. 147 (3), pp. 267-9.Publisher: American Medical Association Country of Publication: United States NLM ID: 0370471 Publication Model: Print Cited

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Academic Journal

Pathological case of the month. Hereditary tyrosinemia type I.

  • Authors : Barness L; Department of Pathology, University of Wisconsin, Center for Health Sciences, Madison 53792.; Gilbert-Barness E

Subjects: Tyrosine*/Tyrosine*/Tyrosine*/blood; 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/diagnosis

  • Source: American journal of diseases of children (1960) [Am J Dis Child] 1992 Jun; Vol. 146 (6), pp. 769-70.Publisher: American Medical Association Country of Publication: United States NLM ID: 0370471 Publication Model: Print Cited

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Academic Journal

Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Ammonia/Ammonia/Ammonia/*blood ; Citrulline/Citrulline/Citrulline/*urine

  • Source: American journal of diseases of children (1960) [Am J Dis Child] 1974 May; Vol. 127 (5), pp. 752-6.Publisher: American Medical Association Country of Publication: United States NLM ID: 0370471 Publication Model: Print Cited

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Academic Journal

Nonketotic hyperglycinemia. Effects of therapy with strychnine.

Subjects: Diseases in Twins*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*drug therapy ; Glycine/Glycine/Glycine/*metabolism

  • Source: American journal of diseases of children (1960) [Am J Dis Child] 1980 Mar; Vol. 134 (3), pp. 273-5.Publisher: American Medical Association Country of Publication: United States NLM ID: 0370471 Publication Model: Print Cited

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Academic Journal

Histidinemia. Classical and atypical form in siblings.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Histidine/Histidine/Histidine/*metabolism; Adolescent

  • Source: American journal of diseases of children (1960) [Am J Dis Child] 1975 Jul; Vol. 129 (7), pp. 858-61.Publisher: American Medical Association Country of Publication: United States NLM ID: 0370471 Publication Model: Print Cited

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  • 1-10 of  82 results for ""Amino Acid Metabolism, Inborn Errors""