Detalhe da pesquisa
1.
Shifting landscapes of human MTHFR missense-variant effects.
Am J Hum Genet
; 108(7): 1283-1300, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214447
2.
Dietary sulfur amino acid restriction in humans with overweight and obesity: a translational randomized controlled trial.
J Transl Med
; 22(1): 40, 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195568
3.
The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study.
J Nutr
; 153(7): 2027-2040, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37164267
4.
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Am J Med Genet A
; 191(1): 130-134, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271828
5.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis
; 45(4): 848-861, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460084
6.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
7.
Sulfur amino acid restriction, energy metabolism and obesity: a study protocol of an 8-week randomized controlled dietary intervention with whole foods and amino acid supplements.
J Transl Med
; 19(1): 153, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858441
8.
Inherited disorders of sulfur amino acid metabolism: recent advances in therapy.
Curr Opin Clin Nutr Metab Care
; 24(1): 62-70, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060459
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33295057
10.
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
J Inherit Metab Dis
; 44(3): 777-786, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089527
11.
Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.
Hum Mutat
; 41(9): 1662-1670, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623804
12.
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
J Nutr
; 150(Suppl 1): 2506S-2517S, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33000152
13.
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
J Inherit Metab Dis
; 42(6): 1064-1076, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714172
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
15.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
16.
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Mol Ther
; 26(3): 834-844, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398487
17.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cent Eur J Public Health
; 27(2): 153-159, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241292
18.
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
FASEB J
; 31(12): 5495-5506, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821635
19.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Eur J Pediatr
; 177(11): 1697-1704, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30136145
20.
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Handb Exp Pharmacol
; 245: 345-383, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29119254