Detalhe da pesquisa
1.
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
J Inherit Metab Dis
; 2024 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38659221
2.
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability.
Acta Neuropsychiatr
; : 1-12, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38178723
3.
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships.
J Inherit Metab Dis
; 46(5): 806-816, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36938792
4.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis
; 45(6): 1094-1105, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36053831
5.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis
; 45(4): 804-818, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35383965
6.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36093991
7.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35722880
8.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32807972
9.
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Mol Genet Metab
; 131(4): 370-379, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33199205
10.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31954591
11.
Bone mineral density is within normal range in most adult phenylketonuria patients.
J Inherit Metab Dis
; 43(2): 251-258, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31587319
12.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
J Inherit Metab Dis
; 43(3): 507-517, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31845337
13.
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
J Inherit Metab Dis
; 43(3): 424-437, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31828787
14.
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
J Inherit Metab Dis
; 42(4): 598-607, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30793323
15.
Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.
J Inherit Metab Dis
; 42(5): 762-775, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31020996
16.
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
J Inherit Metab Dis
; 42(5): 890-897, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31012112
17.
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
J Inherit Metab Dis
; 42(3): 451-458, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30815886
18.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
J Inherit Metab Dis
; 42(5): 878-889, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31268564
19.
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 42(1): 159-168, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30740737
20.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis
; 42(3): 414-423, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30761551