Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000002901 Individual ID 00004161 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset ? Diagnosis/Initial - Age/Examination ? Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details The Island Lake patients excrete low levels of urinary glutaric acid and 3-hydroxyglutaric acid and have significant residual enzyme activity (4-13%). Protein - Biochem - Enzyme/Activity - Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-01-09 15:11:58 +01:00 (CET) Date last edited 2014-04-02 14:45:54 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.