Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

about

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

Item

http://www.wikidata.org/entity/Q58694743

description

scientific article published on 29 August 2018

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в серпні 2018

@uk

name

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@en

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@nl

type

Item

label

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@en

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@nl

prefLabel

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@en

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@nl

P1476

Molecular genetic characteriza ...... ic aciduria and homocystinuria

@en

P2093

Ning Liu

http://www.w3.org/2001/XMLSchema#string

Shiyue Mei

http://www.w3.org/2001/XMLSchema#string

Xiangdong Kong

http://www.w3.org/2001/XMLSchema#string

P2860

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Causes of and diagnostic approach to methylmalonic acidurias.

P2888

s12881-018-0666-x

P304

154

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1186/S12881-018-0666-X

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Shuang Hu

P577

2018-08-29T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

30157807

http://www.w3.org/2001/XMLSchema#string

P932

6116561

http://www.w3.org/2001/XMLSchema#string