Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation-Reference-Cited by-同舟云学术

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

Published:2020-05-04 Issue:5 Volume:43 Page:1131-1142
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Zhao Piming¹,Liu Isaac D.²,Hodgin Jeffrey B.³,Benke Peter I.⁴,Selva Jeremy⁴,Torta Federico⁴,Wenk Markus R.⁴,Endrizzi James A.¹,West Olivia¹,Ou Weixing¹,Tang Emily¹,Goh Denise Li‐Meng²,Tay Stacey Kiat‐Hong²,Yap Hui‐Kim²,Loh Alwin²,Weaver Nicole⁵,Sullivan Bonnie⁵⁶⁷,Larson Austin⁸,Cooper Megan A.⁹,Alhasan Khalid¹⁰,Alangari Abdullah A.¹⁰,Salim Suha¹⁰,Gumus Evren¹¹,Chen Karin¹²,Zenker Martin¹³,Hildebrandt Friedhelm¹⁴,Saba Julie D.¹^ORCID

Affiliation:

1. Department of Pediatrics, Division of Hematology/Oncology University of California San Francisco California USA

2. Department of Pediatrics, Yong Loo Lin School of Medicine National University Health System Singapore Singapore

3. Department of Pathology University of Michigan Hospitals and Health Center Ann Arbor Michigan USA

4. SLING, Department of Biochemistry, Yong Loo Lin School of Medicine National University of Singapore Singapore

5. Department of Pediatrics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

6. Division of Clinical Genetics Children's Mercy Kansas City Kansas City Missouri USA

7. Department of Pediatrics University of Missouri Kansas City Missouri USA

8. Department of Pediatrics University of Colorado School of Medicine Denver Colorado USA

9. Department of Pediatrics Washington University School of Medicine St. Louis Missouri USA

10. Department of Pediatrics, College of Medicine King Saud University Riyadh Saudi Arabia

11. Department of Medicine Harran University Sanliurfa Turkey

12. Department of Pediatrics, Division of Allergy and Immunology University of Utah School of Medicine Salt Lake City Utah USA

13. Institute of Human Genetics Otto von Guericke University Magdeburg Germany

14. Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA

Funder

Jeffrey Modell Foundation

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12238

Reference38 articles.

1. Recent advances and novel treatments for sphingolipidoses

2. Bioactive Sphingolipids in Cancer Biology and Therapy

3. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

4. Acid ceramidase deficiency: Farber disease and SMA-PME

5. A perilous path: the inborn errors of sphingolipid metabolism

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