Himmelreich N 1
,
Bertoldi M 2
,
Alfadhel M 3
,
Alghamdi MA 4
,
Anikster Y 5
,
Bao X 6
Show all authors
,
Bashiri FA 7
,
Zeev BB 8
,
Bisello G 2
,
Ceylan AC 9
,
Chien YH 10
,
Choy YS 11
,
Elsea SH 12
,
Flint L 13
,
García-Cazorla À 14
,
Gijavanekar C 12
,
Gümüş EY 15
,
Hamad MH 16
,
Hişmi B 15
,
Honzik T 17
,
Kuseyri Hübschmann O 18
,
Hwu WL 10
,
Ibáñez-Micó S 19
,
Jeltsch K 20
,
Juliá-Palacios N 14
,
Kasapkara ÇS 21
,
Kurian MA 22
,
Kusmierska K 23
,
Liu N 12
,
Ngu LH 24
,
Odom JD 12
,
Ong WP 24
,
Opladen T 20
,
Oppeboen M 25
,
Pearl PL 26
,
Pérez B 27
,
Pons R 28
,
Rygiel AM 29
,
Shien TE 30
,
Spaull R 22
,
Sykut-Cegielska J 31
,
Tabarki B 32
,
Tangeraas T 33
,
Thöny B 34
,
Wassenberg T 35
,
Wen Y 4
,
Yakob Y 36
,
Yin JGC 30
,
Zeman J 17
,
Blau N 37
Affiliations
- 1 Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany
- 2 Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
- 3 Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
- 4 Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia
- 5 Metabolic Disease Unit, The Edmond and Lily Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Israel
- 6 Department of Pediatrics, Peking University First Hospital, Beijing, China
- 7 Division of Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
- 8 Pediatric Neurology, Safra Pediatric Hospital, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Ramat Gan, Israel
- 9 Ankara Yıldırım Beyazıt University, Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey
- 10 Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
- 11 Prince Court Medical Center, Kuala Lumpur, Malaysia
- 12 Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
- 13 AADC Research Trust, Surrey, UK
- 14 Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain
- 15 Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey
- 16 Neurology Division, Pediatric Department, King Saud University Medical City, Riyadh, SA, Saudi Arabia
- 17 Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
- 18 Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany
- 19 Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain
- 20 Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany
- 21 Department of Pediatric Metabolism, Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Ankara, Turkey
- 22 Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom
- 23 Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland
- 24 Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia
- 25 Children's Department, Division of Child Neurology and Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
- 26 Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
- 27 Centro de Diagnostico de Enfermedades Moleculares, CIBERER, IdiPAZ, Universidad Autonoma de Madrid, Madrid, Spain
- 28 First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece
- 29 Department of Medical Genetics, Laboratory of Hereditary Diseases, Institute of Mother and Child, Warsaw, Poland
- 30 Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore
- 31 Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland
- 32 Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
- 33 Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
- 34 Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland
- 35 UZ Brussel, Department of Pediatrics, Brussels, Belgium
- 36 Molecular Diagnostics Unit, Specialised Diagnostics Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Malaysia
- 37 Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch
PMID: 37453860
DOI: 10.1016/j.ymgme.2023.107647
* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.