Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
about
Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China.Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.Maple syrup urine disease: mechanisms and management.
P2860
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Evolution of maple syrup urine ...... reening versus late diagnosis.
@en
type
label
Evolution of maple syrup urine ...... reening versus late diagnosis.
@en
prefLabel
Evolution of maple syrup urine ...... reening versus late diagnosis.
@en
P2093
P1476
Evolution of maple syrup urine ...... creening versus late diagnosis
@en
P2093
A Fernández-Marmiesse
A García-Cazorla
M D Bóveda
S Meavilla
P304
P356
10.1016/J.EJPN.2015.07.009
P577
2015-07-20T00:00:00Z