Detalhe da pesquisa
1.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Mol Genet Metab
; 127(1): 1-11, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31103398
2.
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.
Eur J Pediatr
; 178(6): 903-911, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30941500
3.
Cholestane-3ß,5α,6ß-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
J Lipid Res
; 56(10): 1926-35, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26239048
4.
Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria.
Nephrology (Carlton)
; 20(8): 576-9, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26194982
5.
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Sci Rep
; 14(1): 6917, 2024 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38519529
6.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
; 34: 1-8, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38087756
7.
Indices of insulin secretion during a liquid mixed-meal test in obese youth with diabetes.
J Pediatr
; 162(5): 924-9, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23290511
8.
Expression of proinflammatory factors in renal cortex induced by methylmalonic acid.
Ren Fail
; 34(7): 885-91, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22583396
9.
Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease.
Front Endocrinol (Lausanne)
; 13: 1058101, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36589817
10.
Vitamin C and folate status in hereditary fructose intolerance.
Eur J Clin Nutr
; 76(12): 1733-1739, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35854131
11.
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution.
Mol Genet Metab Rep
; 26: 100710, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33552904
12.
Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.
J Clin Med
; 10(16)2021 Aug 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34441968
13.
Leigh syndrome associated with TRMU gene mutations.
Mol Genet Metab Rep
; 26: 100690, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33365252
14.
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
J Clin Med
; 10(13)2021 Jun 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34208868
15.
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.
Children (Basel)
; 8(11)2021 Nov 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34828739
16.
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.
J Pediatr Endocrinol Metab
; 23(8): 827-30, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21073125
17.
Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.
J Clin Med
; 9(4)2020 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32252256
18.
Non-alcoholic fatty liver in hereditary fructose intolerance.
Clin Nutr
; 39(2): 455-459, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30833214
19.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
J Pharm Biomed Anal
; 176: 112798, 2019 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31394303
20.
Correction: Vitamin C and folate status in hereditary fructose intolerance.
Eur J Clin Nutr
; 77(11): 1102-1103, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37673953