Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
2.
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3.
Mol Genet Metab
; 142(4): 108515, 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38909587
3.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
4.
Newborn screening for adrenoleukodystrophy: International experiences and challenges.
Mol Genet Metab
; 140(4): 107734, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979237
5.
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mol Genet Metab
; 140(3): 107694, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708665
6.
The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.
J Inherit Metab Dis
; 46(4): 586-594, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843352
7.
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
J Inherit Metab Dis
; 46(4): 705-719, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849760
8.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266255
9.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069502
10.
High yield on aetiology using a systematic diagnostic approach to paediatric acute liver failure, analysis of a nationwide cohort.
Acta Paediatr
; 112(5): 1082-1090, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36895112
11.
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
12.
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Dev Med Child Neurol
; 64(6): 789-798, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080266
13.
Increased risk of sudden death in untreated primary carnitine deficiency.
J Inherit Metab Dis
; 43(2): 290-296, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373028
14.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Mol Genet Metab
; 126(4): 397-405, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827756
15.
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.
Mol Vis
; 25: 1-11, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820140
16.
Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study.
Nephrol Dial Transplant
; 34(9): 1525-1533, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535327
17.
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
J Inherit Metab Dis
; 42(6): 1162-1175, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734935
18.
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
19.
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
20.
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Neurogenetics
; 19(3): 145-149, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754261