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Academic Journal

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar 18. Date of Electronic Publication: 2024 Mar 18.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 supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

Subjects: Liver Transplantation* ; Urea Cycle Disorders, Inborn*/Urea Cycle Disorders, Inborn*/Urea Cycle Disorders, Inborn*/drug therapy ; Urea Cycle Disorders, Inborn*/Urea Cycle Disorders, Inborn*/Urea Cycle Disorders, Inborn*/surgery

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108112. Date of Electronic Publication: 2023 Dec 10.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

  • Authors : Hammann N; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Lenz D

Subjects: Pelger-Huet Anomaly*/Pelger-Huet Anomaly*/Pelger-Huet Anomaly*/complications ; Pelger-Huet Anomaly*/Pelger-Huet Anomaly*/Pelger-Huet Anomaly*/genetics ; Pelger-Huet Anomaly*/Pelger-Huet Anomaly*/Pelger-Huet Anomaly*/pathology

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108118. Date of Electronic Publication: 2024 Jan 11.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

  • Authors : Mütze U; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Ottenberger A

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jan 23. Date of Electronic Publication: 2024 Jan 23.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Academic Journal

Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.

  • Authors : Maier P; Centre for Paediatric and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Jeyaweerasinkam S

  • Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Jan 12; Vol. 10 (1). Date of Electronic Publication: 2024 Jan 12.Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X

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Academic Journal

Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders.

  • Authors : Thiel M; Department of General Pediatrics, Adolescent Medicine and Neonatology Faculty of Medicine, University Medical Center, University of Freiburg Freiburg Germany.; Garbade SF

  • Source: JIMD reports [JIMD Rep] 2023 Dec 05; Vol. 65 (1), pp. 25-38. Date of Electronic Publication: 2023 Dec 05 (Print Publication: 2024).Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304

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Academic Journal

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec 03; Vol. 26 (4), pp. 101039. Date of Electronic Publication: 2023 Dec 03.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic landscape of pediatric acute liver failure of indeterminate origin.

  • Authors : Lenz D; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Schlieben LD

  • Source: Hepatology (Baltimore, Md.) [Hepatology] 2023 Nov 16. Date of Electronic Publication: 2023 Nov 16.Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

  • Authors : Maier EM; Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Munich, Germany.; Mütze U

Subjects: Propionic Acidemia* ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/epidemiology

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1043-1062. Date of Electronic Publication: 2023 Sep 12.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

Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.

  • Authors : Köpfer F; Dietmar-Hopp-Metabolic Center, Centre for Pediatric and Adolescent Medicine, University Hospital, Heidelberg, Germany.; Garbade SF

Subjects: Renal Insufficiency, Chronic*/Renal Insufficiency, Chronic*/Renal Insufficiency, Chronic*/diagnosis; Humans ; Lipocalin-2/Lipocalin-2/Lipocalin-2/urine

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1078-1088. Date of Electronic Publication: 2023 Aug 29.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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