Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
about
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.
P2860
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Guidelines for diagnosis and m ...... lG, cblJ and MTHFR deficiency.
@en
Guidelines for diagnosis and m ...... lG, cblJ and MTHFR deficiency.
@nl
type
label
Guidelines for diagnosis and m ...... lG, cblJ and MTHFR deficiency.
@en
Guidelines for diagnosis and m ...... lG, cblJ and MTHFR deficiency.
@nl
prefLabel
Guidelines for diagnosis and m ...... lG, cblJ and MTHFR deficiency.
@en
Guidelines for diagnosis and m ...... lG, cblJ and MTHFR deficiency.
@nl
P2093
P2860
P50
P921
P1476
Guidelines for diagnosis and m ...... blG, cblJ and MTHFR deficiency
@en
P2093
Alberto Burlina
Angeles Garcia-Cazorla
Bernd Schwahn
Elisabetta Pasquini
James D Weisfeld-Adams
Jean-Francois Benoist
Manuel Schiff
Roberto Cerone
P2860
P2888
P356
10.1007/S10545-016-9991-4
P50
P577
2016-11-30T00:00:00Z