Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders-Reference-Cited by-同舟云学术

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Published:2020-07-15 Issue:9 Volume:41 Page:1615-1628
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abdelfattah Fatima¹,Kariminejad Ariana²,Kahlert Anne‐Karin³⁴,Morrison Patrick J.⁵,Gumus Evren⁶,Mathews Katherine D.⁷,Darbro Benjamin W.⁷,Amor David J.⁸⁹¹⁰,Walsh Maie⁸,Sznajer Yves¹¹,Weiß Luisa³,Weidensee Sabine¹²,Chitayat David¹³¹⁴,Shannon Patrick¹⁵,Bermejo‐Sánchez Eva¹⁶^ORCID,Riaño‐Galán Isolina¹⁷¹⁸¹⁹^ORCID,Hayes Ian²⁰,Poke Gemma²¹,Rooryck Caroline²²,Pennamen Perrine²²,Khung‐Savatovsky Suonavy²³,Toutain Annick²⁴,Vuillaume Marie‐Laure²⁴^ORCID,Ghaderi‐Sohi Siavash²,Kariminejad Mohamad H.²,Weinert Sönke²⁵,Sticht Heinrich²⁶,Zenker Martin¹^ORCID,Schanze Denny¹

Affiliation:

1. Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany

2. Kariminejad‐Najmabadi Pathology and Genetics Center Tehran Iran

3. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden Dresden Germany

4. Department of Congenital Heart Disease and Pediatric Cardiology University Hospital Schleswig‐Holstein Kiel Germany

5. Centre for Cancer Research and Cell Biology Queen's University Belfast Belfast UK

6. Division of Medical Genetics School of Medicine, Harran University Sanliurfa Turkey

7. Carver College of Medicine University of Iowa Iowa City Iowa

8. Murdoch Children's Research Institute Royal Children's Hospital Parkville Victoria Australia

9. Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

10. Royal Children's Hospital Parkville Victoria Australia

11. Centre de Génétique Humaine, Cliniques Universitaires Saint Luc Université Catholique de Louvain Brussels Belgium

12. Human Medical Genetics Erfurt Germany

13. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital University of Toronto Toronto Ontario Canada

14. Division of Clinical and Metabolic Genetics, The Hospital for SickKids University of Toronto Toronto Ontario Canada

15. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital University of Toronto Toronto Ontario Canada

16. ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Unit on Congenital Anomalies (UIAC), Institute of Rare Diseases Research (IIER), Institute of Health Carlos III, Ministry of Science and Innovation Madrid Spain

17. AGC de Pediatría Hospital Universitario Central de Asturias Oviedo Spain

18. IUOPA‐Departamento de Medicina‐ISPA Universidad de Oviedo Oviedo Spain

19. CIBER de Epidemiologia y Salud Pública Madrid Spain

20. Genetic Health Service New Zealand Auckland Hospital Auckland New Zealand

21. Genetic Health Service New Zealand, Wellington Regional Hospital Wellington New Zealand

22. MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale University of Bordeaux Bordeaux France

23. Unité de Fœtopathologie Hôpital Universitaire Robert‐Debré Paris France

24. Service de Génétique, CHU de Tours, UMR 1253, iBrain Université de Tours, INSERM Tours France

25. Department of Cardiology and Angiology, Internal Medicine University Hospital Magdeburg Magdeburg Germany

26. Institute of Biochemistry Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

Funder

Instituto de Salud Carlos III

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24067

Reference51 articles.

1. Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase

2. Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

3. Rare Manifestations of Neu-Laxova Syndrome

4. Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

5. Two new cases of serine deficiency disorders treated with l-serine

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