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BCKDHA gene

Known as: BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE, MSU, maple syrup urine disease 
National Institutes of Health

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2 relations
BCKDHB geneMaple Syrup Urine Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
2018
2018
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
Abstract Background: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of… 
2016
2016
Monosodium urate crystal-induced triggering receptor expressed on myeloid cells 1 is associated with acute gouty inflammation.
OBJECTIVE Triggering receptor expressed on myeloid cells 1 (TREM-1), which amplifies the inflammation elicited by the Toll-like… 
2014
2014
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease
Purpose:This article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene… 
2012
2012
Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
2011
2011
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism caused by… 
2011
2011
Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease
Abstract Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids… 
2009
2009
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease
SummaryMaple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by defective activity of the branched… 
2001
2001
Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community
The turnaround time for diagnosis of maple syrup urine disease (MSUD) by classic serum amino acid analyses often requires 3–4… 
1998
1998
Global warming deduced from MSU
Microwave Sounding Unit (MSU) radiometer observations in Channel 2 (53.74 GHz) made from sequential, sun‐synchronous, polar… 
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