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Academic Journal

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

  • Authors : Reischl-Hajiabadi AT; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Schnabel E

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Homocystinuria*/Homocystinuria*/Homocystinuria*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis Methylmalonic acidemia; Methylenetetrahydrofolate reductase deficiency

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 674-689. Date of Electronic Publication: 2024 Apr 02.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

  • Authors : Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; DiBacco ML

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*physiopathology ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*epidemiology succinic semialdehyde dehydrogenase deficiency

  • Source: Journal of child neurology [J Child Neurol] 2021 Nov; Vol. 36 (13-14), pp. 1153-1161. Date of Electronic Publication: 2021 Jan 04.Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283

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Academic Journal

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.

  • Authors : Boy N; Centre for Child and Adolescent Medicine, Clinic I, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Mohr A

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Brain/Brain/Brain/*pathology ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*complications Glutaric Acidemia I

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1343-1352. Date of Electronic Publication: 2021 Sep 30.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

  • Authors : Märtner EMC; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Thimm E

Subjects: Child Development*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*complications Glutaric Acidemia I

  • Source: Scientific reports [Sci Rep] 2021 Sep 29; Vol. 11 (1), pp. 19300. Date of Electronic Publication: 2021 Sep 29.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.

  • Authors : Mütze U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.; Henze L

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/*psychology Acidemia, isovaleric

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 857-870. Date of Electronic Publication: 2021 Feb 07.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.

  • Authors : Märtner EMC; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany.; Maier EM

Subjects: 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/*therapy ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*diagnosis Glutaric Acidemia I

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 629-638. Date of Electronic Publication: 2020 Dec 15.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

  • Authors : Kölker S; Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, D-69120 Heidelberg, Germany. ; Garbade SF

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

  • Source: Pediatric research [Pediatr Res] 2007 Sep; Vol. 62 (3), pp. 357-63.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.

  • Authors : Hennermann JB; Department of Pediatrics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ; Roloff S

Subjects: Neonatal Screening*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*diagnosis Glutaric Acidemia I

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2009 Dec; Vol. 32 Suppl 1, pp. S355-9. Date of Electronic Publication: 2009 Dec 23.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

  • Authors : Boy N; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Mengler K

Subjects: Early Diagnosis* ; Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*therapy Glutaric Acidemia I

  • Source: Annals of neurology [Ann Neurol] 2018 May; Vol. 83 (5), pp. 970-979. Date of Electronic Publication: 2018 Apr 30.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Subjects: Acyl-CoA Dehydrogenase/Acyl-CoA Dehydrogenase/Acyl-CoA Dehydrogenase/*deficiency ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*epidemiology

  • Source: European journal of pediatrics [Eur J Pediatr] 2004 Feb; Vol. 163 (2), pp. 76-80. Date of Electronic Publication: 2004 Jan 09.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  20 results for ""Amino Acid Metabolism, Inborn Errors""