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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36190515
2.
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 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38375550
3.
Newborn screening for adrenoleukodystrophy: International experiences and challenges.
Mol Genet Metab
; 140(4): 107734, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37979237
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36266255
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38069502
6.
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Dev Med Child Neurol
; 64(6): 789-798, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35080266
7.
Increased risk of sudden death in untreated primary carnitine deficiency.
J Inherit Metab Dis
; 43(2): 290-296, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31373028
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827756
9.
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.
Mol Vis
; 25: 1-11, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30820140
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30535327
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30734935
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30773687
13.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740731
14.
Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes.
Am J Physiol Gastrointest Liver Physiol
; 314(1): G91-G96, 2018 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28971838
15.
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia.
Pediatr Res
; 84(2): 228-232, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29892033
16.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
J Inherit Metab Dis
; 41(6): 1215-1223, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29846843
17.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 41(4): 741-742, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29234995
18.
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
J Inherit Metab Dis
; 41(6): 1225-1233, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29725868
19.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29330779
20.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Acta Paediatr
; 107(8): 1402-1408, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29797470