From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series
Year: 2025
Type: article
Language: en
Topic: Peroxisome Proliferator-Activated Receptors
Authors and affiliations:
raw_author_name: U. Diaz‐Moreno
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Great Ormond Street Hospital  London UK
Department of Paediatric Inherited Metabolic Medicine, Great Ormond Street Hospital, London, UK
raw_author_name: S. L. C. Brothwell
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK
Department of Paediatric Inherited Metabolic Medicine, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
raw_author_name: A. Darling
raw_affiliation_strings: Paediatric Neurometabolic Unit Hospital Universitario Sant Joan de Deu  Barcelona Spain
Paediatric Neurometabolic Unit, Hospital Universitario Sant Joan de Deu, Barcelona, Spain
raw_author_name: H. Baide‐Mairena
raw_affiliation_strings: Paediatric Neurometabolic Unit Hospital Universitario Sant Joan de Deu  Barcelona Spain
Paediatric Neurometabolic Unit, Hospital Universitario Sant Joan de Deu, Barcelona, Spain
raw_author_name: H. Lemonde
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Evelina London Children's Hospital  London UK
Department of Paediatric Inherited Metabolic Medicine, Evelina London Children's Hospital, London, UK
raw_author_name: E. Turon‐Viñas
raw_affiliation_strings: Department of Paediatric Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain
Department of Paediatric Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
raw_author_name: S. Korenev
raw_affiliation_strings: Willink Metabolic Unit Royal Manchester Children's Hospital  Manchester UK
Willink Metabolic Unit, Royal Manchester Children's Hospital, Manchester, UK
raw_author_name: S. Ibañez
raw_affiliation_strings: Paediatric Neurology Unit Hospital Universitario Virgen de la Arrixaca  Murcia Spain
Paediatric Neurology Unit, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
raw_author_name: C. Beesley
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Great Ormond Street Hospital  London UK
NHS North Thames Genomic Laboratory Hub Great Ormond Street Hospital  London UK
NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK
Department of Paediatric Inherited Metabolic Medicine, Great Ormond Street Hospital, London, UK
raw_author_name: P. Gissen
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Great Ormond Street Hospital  London UK
NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond St  London UK
NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond St, London, UK
Department of Paediatric Inherited Metabolic Medicine, Great Ormond Street Hospital, London, UK
raw_author_name: A. Parida
raw_affiliation_strings: Department of Paediatric Neurology Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK
Department of Paediatric Neurology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
raw_author_name: S. Santra
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK
Department of Paediatric Inherited Metabolic Medicine, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
raw_author_name: E. Wassmer
raw_affiliation_strings: Department of Paediatric Neurology Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK
Department of Paediatric Neurology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
raw_author_name: S. Batzios
raw_affiliation_strings: Department of Paediatric Inherited Metabolic Medicine Great Ormond Street Hospital  London UK
Department of Paediatric Inherited Metabolic Medicine, Great Ormond Street Hospital, London, UK