Ontology highlight
ABSTRACT:
SUBMITTER: Cathey SS
PROVIDER: S-EPMC6850974 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Cathey Sara S SS Sarasua Sara M SM Simensen Richard R Pietris Katie K Kimbrell Gordon G Sillence David D Wilson Callum C Horowitz Lucia L
JIMD reports 20190921 1
Alpha-mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α-mannosidase encoded by the gene <i>MAN2B1</i>. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha-mannosidosis (ages 8-59 years, 10 males, 2 females). In addition, a pooled analysis was performed wi ...[more]