Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal
enzyme alanine: glyoxylate-aminotransferase (AGT), which catalyzes the conversion of …

The 2q37 deletion syndrome, also described in the literature as brachydactyly‐mental
retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the …

Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different
types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature …

Deposition of calcium oxalate crystals in the kidney and bone is a hallmark of primary
hyperoxaluria (PH). Since the bone compartment can store massive amounts of oxalate …

Abstract Primary Hyperoxaluria type I (PH1) is a rare disease caused by mutations in the
AGXT gene encoding alanine: glyoxylate aminotransferase (AGT), a liver enzyme involved …

Purpose Next generation sequencing-based exome sequencing can be used to identify
genetic abnormalities in patients believed to be suffering from primary hyperoxaluria. We …

Thailand's history goes back more than 700 years, and since 1782, Bangkok has been the
capital. The population of Thailand in 2013 was 69.52 million, ranked 20th in the world …

Background People with autosomal recessive disorders often were born without awareness
of the carrier status of their parents. The American College of Medical Genetics and …

Introduction: The primary hyperoxalurias (PH) are a group of inherited disorders
characterised by increased urinary oxalate leading to renal stone disease and severe …

Deletion of chromosome 2q37 results in a rare congenital syndrome known as
brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes …