Detalhe da pesquisa
1.
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Mol Genet Metab
; 142(1): 108464, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38537426
2.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733639
3.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Kidney Int
; 102(3): 592-603, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483523
4.
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Kidney Int
; 102(3): 604-612, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643375
5.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
6.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clin Genet
; 102(6): 524-529, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916082
7.
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
Eur J Pediatr
; 181(6): 2415-2422, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294644
8.
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Am J Hum Genet
; 102(6): 1018-1030, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754768
9.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581104
10.
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
J Inherit Metab Dis
; 44(4): 893-902, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33638202
11.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
J Inherit Metab Dis
; 44(5): 1272-1287, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145613
12.
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Genet Med
; 21(3): 580-590, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997390
13.
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
J Inherit Metab Dis
; 42(3): 398-406, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706953
14.
Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.
J Pediatr Gastroenterol Nutr
; 64(6): 864-868, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28267072
15.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
J Inherit Metab Dis
; 39(2): 273-83, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642971
16.
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome.
J Lipid Res
; 55(2): 329-37, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259532
17.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263760
18.
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients.
J Lipid Res
; 54(1): 244-53, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23072947
19.
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.
Am J Med Genet A
; 161A(5): 1008-11, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532938
20.
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Nutrients
; 15(15)2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37571294