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Academic Journal

Blue Diaper Syndrome and PCSK1 Mutations.

  • Authors : Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany; .

Subjects: Frameshift Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics Blue diaper syndrome

  • Source: Pediatrics [Pediatrics] 2018 Apr; Vol. 141 (Suppl 5), pp. S501-S505.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.

  • Authors : Signolet I; Department of Biochemistry and Genetics, University Hospital, Angers, France.; Chenouard R

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Anemia, Hemolytic/Anemia, Hemolytic/Anemia, Hemolytic/*etiology ; Glutathione Synthase/Glutathione Synthase/Glutathione Synthase/*deficiencyGlutathione synthetase deficiency

  • Source: Pediatrics [Pediatrics] 2016 Sep; Vol. 138 (3).Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*surgery ; Liver Transplantation/Liver Transplantation/Liver Transplantation/*methods ; Methylmalonic Acid/Methylmalonic Acid/Methylmalonic Acid/*bloodMethylmalonic acidemia

  • Source: Pediatrics [Pediatrics] 2015 Jul; Vol. 136 (1), pp. e252-6. Date of Electronic Publication: 2015 Jun 15.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.

  • Authors : Armour CM; Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Canada.; Brebner A

Subjects: Neonatal Screening*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics Methylmalonic Aciduria and Homocystinuria, CblF Type

  • Source: Pediatrics [Pediatrics] 2013 Jul; Vol. 132 (1), pp. e257-61. Date of Electronic Publication: 2013 Jun 17.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

Neurocognitive phenotype of isolated methylmalonic acidemia.

  • Authors : O'Shea CJ; National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892-4472, USA.; Sloan JL

Subjects: Neuropsychological Tests* ; Phenotype*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis Methylmalonic acidemia

  • Source: Pediatrics [Pediatrics] 2012 Jun; Vol. 129 (6), pp. e1541-51. Date of Electronic Publication: 2012 May 21.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

The lure of treatment: expanded newborn screening and the curious case of histidinemia.

Subjects: Neonatal Screening*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*blood ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis

  • Source: Pediatrics [Pediatrics] 2010 Mar; Vol. 125 (3), pp. 417-9. Date of Electronic Publication: 2010 Feb 15.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.

  • Authors : Sarafoglou K; Department of Pediatrics, University of Minnesota Medical School, MMC 8404 13-124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA. ; Matern D

Subjects: Amino Acid Metabolism, Inborn Errors*; Acetyl-CoA C-Acyltransferase/Acetyl-CoA C-Acyltransferase/Acetyl-CoA C-Acyltransferase/deficiency ; Child, Preschool Beta ketothiolase deficiency

  • Source: Pediatrics [Pediatrics] 2011 Jul; Vol. 128 (1), pp. e246-50. Date of Electronic Publication: 2011 Jun 13.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

  • Authors : Matern D; Department of Laboratory Medicine & Pathology, Mayo Clinic & Foundation, Rochester, Minnesota 55905, USA. ; He M

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Mass Spectrometry* ; Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods

  • Source: Pediatrics [Pediatrics] 2003 Jul; Vol. 112 (1 Pt 1), pp. 74-8.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

  • Authors : Tan WH; Genetics Training Program, Harvard Medical School, Boston, Massachusetts, USA.; Eichler FS

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*diagnosis ; Sulfite Oxidase/Sulfite Oxidase/Sulfite Oxidase/*deficiency

  • Source: Pediatrics [Pediatrics] 2005 Sep; Vol. 116 (3), pp. 757-66.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Editorial & Opinion

Subdural hematomas and glutaric aciduria type I.

Subjects: Oxidoreductases Acting on CH-CH Group Donors*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Child Abuse/Child Abuse/Child Abuse/*diagnosis

  • Source: Pediatrics [Pediatrics] 2001 Feb; Vol. 107 (2), pp. 451.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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  • 1-10 of  142 results for ""Amino Acid Metabolism, Inborn Errors""