[HTML][HTML] Primary hyperoxaluria type 1
DS Milliner, PC Harris, DJ Sas, AG Cogal, JC Lieske - 2022 - europepmc.org
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal
enzyme alanine: glyoxylate-aminotransferase (AGT), which catalyzes the conversion of …
enzyme alanine: glyoxylate-aminotransferase (AGT), which catalyzes the conversion of …
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic …
TN Le, SR Williams, JT Alaimo… - American Journal of …, 2019 - Wiley Online Library
The 2q37 deletion syndrome, also described in the literature as brachydactyly‐mental
retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the …
retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the …
Brachydactyly E: isolated or as a feature of a syndrome
A Pereda, I Garin, M Garcia-Barcina, B Gener… - Orphanet journal of rare …, 2013 - Springer
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 …
types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature …
Bone impairment in primary hyperoxaluria: a review
J Bacchetta, G Boivin, P Cochat - Pediatric Nephrology, 2016 - Springer
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 …
hyperoxaluria (PH). Since the bone compartment can store massive amounts of oxalate …
The ILE56 mutation on different genetic backgrounds of alanine: glyoxylate aminotransferase: clinical features and biochemical characterization
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 …
AGXT gene encoding alanine: glyoxylate aminotransferase (AGT), a liver enzyme involved …
Extended genetic analysis of exome sequencing for primary hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria
Y Zhao, Y Li, X Fang, L He, Y Fan, H Geng, J Wu - Gene, 2022 - Elsevier
Purpose Next generation sequencing-based exome sequencing can be used to identify
genetic abnormalities in patients believed to be suffering from primary hyperoxaluria. We …
genetic abnormalities in patients believed to be suffering from primary hyperoxaluria. We …
[HTML][HTML] Genetics and genomics in Thailand: challenges and opportunities
V Shotelersuk, C Limwongse… - Molecular genetics & …, 2014 - ncbi.nlm.nih.gov
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 …
capital. The population of Thailand in 2013 was 69.52 million, ranked 20th in the world …
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
W Chetruengchai, P Phowthongkum… - BMC Medical …, 2024 - Springer
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 …
of the carrier status of their parents. The American College of Medical Genetics and …
Molecular basis of primary hyperoxaluria and strategies for diagnosis
G Rumsby - Expert Opinion on Orphan Drugs, 2015 - Taylor & Francis
Introduction: The primary hyperoxalurias (PH) are a group of inherited disorders
characterised by increased urinary oxalate leading to renal stone disease and severe …
characterised by increased urinary oxalate leading to renal stone disease and severe …
Brachydactyly mental retardation syndrome with growth hormone deficiency
A Arefzadeh, P Khalighinejad… - … & Metabolism Case …, 2018 - edm.bioscientifica.com
Deletion of chromosome 2q37 results in a rare congenital syndrome known as
brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes …
brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes …