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1.
The effect of diet-induced weight loss on circulating homocysteine levels in people with obesity and type 2 diabetes.
Nutr J
; 23(1): 2, 2024 Jan 03.
Article
in English
| MEDLINE | ID: mdl-38167024
2.
Goal Attainment Scale in tinnitus (GAS-T): treatment goal priorities by chronic tinnitus patients in a real-world setting.
Eur Arch Otorhinolaryngol
; 281(2): 693-700, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37488402
3.
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Genet Mol Biol
; 46(3 Suppl 1): e20230103, 2024.
Article
in English
| MEDLINE | ID: mdl-38591937
4.
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.
Mol Genet Metab
; 136(3): 199-218, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35660124
5.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35358327
6.
Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
J Inherit Metab Dis
; 44(3): 677-692, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33295057
7.
Practical applicability of the STAMCO and ChOLE classification in cholesteatoma care.
Eur Arch Otorhinolaryngol
; 278(10): 3777-3787, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33336300
8.
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Hum Mutat
; 40(2): 230-240, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30408270
9.
Effect of BTD gene variants on in vitro biotinidase activity.
Mol Genet Metab
; 127(4): 361-367, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31337602
10.
Analysis of the Qatari R336C cystathionine ß-synthase protein in mice.
J Inherit Metab Dis
; 42(5): 831-838, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31240737
11.
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
J Inherit Metab Dis
; 42(5): 818-830, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30968424
12.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30773687
13.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30740731
14.
Adenosine Kinase Deficiency: Report and Review.
Neuropediatrics
; 50(1): 46-50, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30477030
15.
S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation.
Biochim Biophys Acta
; 1862(1): 82-92, 2016 01.
Article
in English
| MEDLINE | ID: mdl-26506125
16.
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine ß-synthase p.R336C.
Hum Mol Genet
; 24(25): 7339-48, 2015 Dec 20.
Article
in English
| MEDLINE | ID: mdl-26464485
17.
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
J Inherit Metab Dis
; 40(1): 5-20, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27671891
18.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis
; 40(1): 21-48, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27905001
19.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis
; 40(1): 49-74, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27778219
20.
Folic Acid Impairs the Uptake of 5-Methyltetrahydrofolate in Human Umbilical Vascular Endothelial Cells.
J Cardiovasc Pharmacol
; 70(4): 271-275, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28991880