Detalhe da pesquisa
1.
Open-label, single-center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I.
J Inherit Metab Dis
; 47(2): 355-365, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467596
2.
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
J Inherit Metab Dis
; 45(2): 157-168, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625984
3.
Expanding the spectrum of gestational alloimmune liver disease.
J Paediatr Child Health
; 58(8): 1450-1451, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34755414
4.
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.
Am J Med Genet A
; 167A(11): 2697-701, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26289840
5.
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Am J Med Genet A
; 164A(8): 1953-64, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764221
6.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
J Inherit Metab Dis
; 37(5): 831-40, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599607
7.
Diagnosing mucopolysaccharidosis IVA.
J Inherit Metab Dis
; 36(2): 293-307, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23371450
8.
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
JIMD Rep
; 60(1): 10-14, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258136
9.
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
J Inherit Metab Dis
; 33(1): 51-60, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140523
10.
Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis.
J Child Neurol
; 35(6): 410-417, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157938
11.
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Urolithiasis
; 48(4): 337-344, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399606
12.
Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review.
JIMD Rep
; 46(1): 16-22, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240150
13.
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.
JIMD Rep
; 43: 71-77, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654546
14.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mol Genet Metab
; 94(4): 469-475, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18502162
15.
Dietary L-tyrosine supplementation in nemaline myopathy.
J Child Neurol
; 23(6): 609-13, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079309
16.
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Hum Mutat
; 28(9): 897-903, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17458871
17.
Response to Ly Pen and Andreu: Response to: "Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis".
J Child Neurol
; 35(14): 1019, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686576
18.
Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study
J. inborn errors metab. screen
; 8: e20200001, 2020. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1135005
19.
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Pathology
; 46(1): 41-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24300712
20.
Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study
J. inborn errors metab. screen
; 6: e170025, 2018. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090972