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Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

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Title: Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.
Authors: Hammann N; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Staufner C; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Schlieben LD; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany., Dezsőfi-Gottl A; Bókay Street Department, Pediatric Centre, Semmelweis University, Budapest, Hungary., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Häberle J; University Children's Hospital Zurich and Children's Research Center, Zurich, Switzerland., Junge N; Division for Paediatric Gastroenterology and Hepatology, Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany., McLin V; Swiss Pediatric Liver Center Geneva University Hospitals Geneva, Geneva, Switzerland., Rymen D; Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Slavetinsky C; Paediatric Surgery and Urology, University Children's Hospital Tübingen, Tübingen, Germany., Sturm E; Paediatric Gastroenterology and Hepatology, University Children's Hospital Tübingen, Tübingen, Germany., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Kölker S; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Lenz D; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 May; Vol. 48 (3), pp. e70035.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.
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