Detalhe da pesquisa
1.
Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17.
Cerebellum
; 18(3): 654-658, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617627
2.
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Blood Cells Mol Dis
; 68: 203-208, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28274788
3.
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.
J Inherit Metab Dis
; 37(6): 961-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24638276
4.
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.
J Inherit Metab Dis
; 37(6): 969-78, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24831586
5.
Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
J Inherit Metab Dis
; 36(3): 575-80, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22968580
6.
Animal models for lysosomal storage disorders.
Biochemistry (Mosc)
; 78(7): 721-5, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24010835
7.
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
Mol Genet Metab
; 105(1): 126-31, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22115770
8.
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
J Inherit Metab Dis
; 34(3): 643-50, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21445609
9.
Long-term outcomes of liver transplantation in type 1 Gaucher disease.
Am J Transplant
; 10(8): 1934-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20659098
10.
A bolt from the blue; A case report of an unusual asthma exacerbation.
Respir Med Case Rep
; 29: 100983, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908916
11.
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.
Mol Genet Metab
; 96(4): 164-70, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19195916
12.
Krabbe disease: an overview.
Int J Clin Pharmacol Ther
; 47 Suppl 1: S75-81, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20040316
13.
Spontaneous appearance of Tay-Sachs disease in an animal model.
Mol Genet Metab
; 95(1-2): 59-65, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18693054
14.
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
Clin Genet
; 73(5): 430-40, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18312448
15.
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
J Inherit Metab Dis
; 31(3): 319-36, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18509745
16.
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
J Clin Invest
; 99(10): 2530-7, 1997 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-9153297
17.
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
J Clin Invest
; 103(6): 817-23, 1999 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10079102
18.
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
J Inherit Metab Dis
; 30(5): 817, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17514507
19.
Laronidase for treating mucopolysaccharidosis type I.
Genet Mol Res
; 6(3): 667-74, 2007 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18050087
20.
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.
Arch Intern Med
; 158(16): 1754-60, 1998 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-9738604