Detalhe da pesquisa
1.
Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Cytokine
; 162: 156088, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462220
2.
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.
J Inherit Metab Dis
; 38(3): 529-36, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25224825
3.
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
Genes (Basel)
; 14(12)2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137041
4.
Body composition in patients with hepatic glycogen storage diseases.
Nutrition
; 103-104: 111763, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35843041
5.
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Mol Genet Metab
; 104 Suppl: S80-5, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22014474
6.
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
Orphanet J Rare Dis
; 16(1): 254, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082801
7.
Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases.
Nutrients
; 13(9)2021 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34578865
8.
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Orphanet J Rare Dis
; 16(1): 238, 2021 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022924
9.
Determination of amylose/amylopectin ratio of starches.
J Inherit Metab Dis
; 38(5): 985-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25921820
10.
Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.
J Inherit Metab Dis
; 38(5): 987, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989743
11.
Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.
JIMD Rep
; 45: 21-27, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242630
12.
Hepatic glycogen storage diseases are associated to microbial dysbiosis.
PLoS One
; 14(4): e0214582, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30939160
13.
Correction: Hepatic glycogen storage diseases are associated to microbial dysbiosis.
PLoS One
; 14(6): e0218254, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170256
14.
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Orphanet J Rare Dis
; 14(1): 103, 2019 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077260
15.
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Mol Genet Genomic Med
; 7(11): e877, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31508908
16.
Assessment of quality of life in Gaucher disease: A methodological approach.
Mol Genet Genomic Med
; 9(1): e1549, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220153
17.
Analysis of body composition and nutritional status in Brazilian phenylketonuria patients.
Mol Genet Metab Rep
; 6: 16-20, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014574
18.
Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil.
Cien Saude Colet
; 20(5): 1607-16, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26017962
19.
Maple syrup urine disease in Brazil: a panorama of the last two decades.
J Pediatr (Rio J)
; 91(3): 292-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512172
20.
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?
Mol Genet Metab Rep
; 18: 30-31, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30705823