Open AccessCharacterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency
Author(s) -
Jinru Zhang,
Jingzhe Han,
Yaye Wang,
Yue Wu,
Liang Ma,
Xueqin Song,
Guang Ji
Publication year - 2022
Publication title -
balkan medical journal/balkan medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.398
H-Index - 16
eISSN - 2146-3131
pISSN - 2146-3123
DOI - 10.4274/balkanmedj.galenos.2022.2022-1-127
Subject(s) - pathological , muscle biopsy , medicine , compound heterozygosity , gastroenterology , pathology , genetic testing , riboflavin , endocrinology , genetics , biopsy , mutation , gene , biology , biochemistry
To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD).