Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

about

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.

P2860

Q47239678-CB159027-1E11-41F3-9CCC-FFFA30E0C080 Q47631088-62ED844E-5E81-48C2-B7A2-AE8AA9381AAE Q47844285-70DC2531-1542-4B57-89BB-A276C4946040

P2860

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

Item

http://www.wikidata.org/entity/Q38733253

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

@en

type

Item

label

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

@en

prefLabel

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

@en

P1476

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

@en

P2093

Ahmed Mosaeilhy

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

Heba S A El Abd

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

Magdy M Mohamed

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

Radwa Gamal

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

P2860

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Type I glutaric aciduria, part 1: natural history of 77 patients

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information

SIFT: Predicting amino acid changes that affect protein function

Two patients with Canavan disease and structural modeling of a novel mutation.

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

P2888

s11011-017-0006-4

P31

scholarly article

P356

10.1007/S11011-017-0006-4

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

P50

Hatem Zayed

George Priya Doss C

Osama K. Zaki

P577

2017-04-07T00:00:00Z

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

P6179

1084519010

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

P698

28389991

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

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

about

P2860

P2860

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P31

P356

P50

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P50

P577

P6179

P698