ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy-Reference-Cited by-同舟云学术

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Published:2020-06-24 Issue:9 Volume:41 Page:1469-1487
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Elsea Sarah H.¹^ORCID,Solyom Alexander²,Martin Kirt¹,Harmatz Paul³,Mitchell John⁴,Lampe Christina⁵,Grant Christina⁶,Selim Laila⁷,Mungan Neslihan Oneli⁸,Guelbert Norberto⁹,Magnusson Bo¹⁰,Sundberg Erik¹⁰,Puri Ratna¹¹,Kapoor Seema¹²,Arslan Nur¹³,DiRocco Maja¹⁴,Zaki Maha¹⁵,Ozen Seza¹⁶,Mahmoud Iman G.⁷,Ehlert Karoline¹⁷,Hahn Andreas⁵,Gokcay Gulden¹⁸,Torcoletti Marta¹⁹,Ferreira Carlos R.²⁰

Affiliation:

1. Molecular and Human Genetics Baylor College of Medicine Houston Texas

2. Enzyvant Basel Switzerland

3. Pediatric Gastroenterolgy and Nutrition UCSF Benioff Children's Hospital Oakland Oakland California

4. Montreal Children's Hospital Montreal Canada

5. UKGM Universitätsklinikum Giessen Giessen Germany

6. Children's National Medical Center Washington, DC

7. Cairo University Children's Hospital Cairo Egypt

8. Cukurova University Hospital Adana Turkey

9. Children's Hospital of Cordoba Cordoba Argentina

10. Karolinska University Hospital Stockholm Sweden

11. Sir Ganga Ram Hospital New Delhi India