Detalhe da pesquisa
1.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
J Pediatr Hematol Oncol
; 45(7): 416-422, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37539993
2.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Am J Med Genet A
; 188(3): 760-767, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806811
3.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet
; 187(3): 349-356, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960103
4.
Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy.
Heart Vessels
; 34(2): 290-295, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30136169
5.
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
J Inherit Metab Dis
; 39(5): 713-723, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287710
6.
Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know.
Radiographics
; 36(5): 1448-62, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618324
7.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Mol Neurobiol
; 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38180615
8.
Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy.
Cannabis Cannabinoid Res
; 2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36862522
9.
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Orphanet J Rare Dis
; 18(1): 264, 2023 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667390
10.
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.
J Neuromuscul Dis
; 10(6): 1145-1149, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37781817
11.
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Biomedicines
; 11(2)2023 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830903
12.
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Am J Med Genet A
; 158A(5): 1055-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22492741
13.
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
J Inherit Metab Dis
; 39(5): 759, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27498540
14.
Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy.
Front Cardiovasc Med
; 8: 801147, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35097020
15.
Ocular manifestations in classic homocystinuria.
Ophthalmic Genet
; 42(1): 71-74, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940091
16.
Look carefully to the heels! A potentially treatable cause of spastic paraplegia.
J Inherit Metab Dis
; 38(2): 363-4, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25112387
17.
Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria.
Acta Neurol Belg
; 120(4): 893-899, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29981005
18.
The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.
Mol Genet Metab Rep
; 25: 100659, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33101979
19.
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Orphanet J Rare Dis
; 15(1): 309, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131499
20.
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