Search details
1.
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Neurogenetics
; 21(4): 289-299, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32632536
2.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 130(3): 172-178, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32402538
3.
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Hum Mutat
; 40(7): 975-982, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30908763
4.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis
; 42(2): 353-361, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30043187
5.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
J Inherit Metab Dis
; 41(2): 169-180, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29238895
6.
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Am J Hum Genet
; 92(4): 627-31, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23561848
7.
Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.
Biochim Biophys Acta
; 1840(6): 2070-9, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24561156
8.
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
Hum Mutat
; 35(9): 1128-35, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24962355
9.
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
J Inherit Metab Dis
; 37(2): 245-54, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-23974653
10.
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
J Med Genet
; 50(11): 754-9, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24049096
11.
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
JCO Precis Oncol
; 8: e2300599, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38709992
12.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum Mutat
; 31(4): 380-90, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20052767
13.
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Hum Mutat
; 28(9): 890-6, 2007 Sep.
Article
in English
| MEDLINE | ID: mdl-17465020
14.
Characterization and crystallization of a novel haemoglobinase from pathogenic Escherichia coli.
Acta Crystallogr D Biol Crystallogr
; 58(Pt 5): 843-5, 2002 May.
Article
in English
| MEDLINE | ID: mdl-11976498
15.
Escherichia coli hemoglobin protease autotransporter contributes to synergistic abscess formation and heme-dependent growth of Bacteroides fragilis.
Infect Immun
; 70(1): 5-10, 2002 Jan.
Article
in English
| MEDLINE | ID: mdl-11748157
Results
1 -
15
de 15
1
Next >
>>