Work

Rare Saposin A deficiency: Novel variant and psychosine analysis

Year: 2019

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2019.08.001

Authors: Laurel Calderwood, David A. Wenger, Dietrich Matern, Hisham Dahmoush, Valerie Watiker, Chung Lee

Institutions: Lucile Packard Children's Hospital, Stanford Medicine, Stanford University, Thomas Jefferson University, Mayo Clinic, University of Mississippi Medical Center

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2966260711

FWCI: 1.709

Cites: 15

Cited by: 18

Related to: 10