Detalhe da pesquisa
1.
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Clin Genet
; 88(2): 161-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25040344
2.
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.
J Med Genet
; 51(1): 1-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922385
3.
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Mol Genet Metab
; 107(3): 526-33, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22818240
4.
Screening for Fabry disease in high-risk populations: a systematic review.
J Med Genet
; 47(4): 217-22, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19797197
5.
Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention.
Biochim Biophys Acta
; 1781(1-2): 72-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18155675
6.
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
J Med Genet
; 44(4): 277-80, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17158594
7.
Secretory phospholipase A(2) in newborn infants with sepsis.
J Perinatol
; 28(4): 291-6, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18200020
8.
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
J Inherit Metab Dis
; 30(6): 988, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17849232
9.
Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.
Clin Genet
; 80(5): 500-2, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243051
10.
Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.
J Inherit Metab Dis
; 29(4): 587, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16830260
11.
[From gene to disease; Gaucher disease]. / Van gen naar ziekte; de ziekte van Gaucher.
Ned Tijdschr Geneeskd
; 149(39): 2163-6, 2005 Sep 24.
Artigo
em Holandês
| MEDLINE | ID: mdl-16223076
12.
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
Bull Soc Belge Ophtalmol
; (286): 19-24, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12564313
13.
[Clinical reasoning and decision making in practice. A 9-year-old boy with isolated splenomegaly]. / Klinisch denken en beslissen in de praktijk. Een 9-jarige jongen met een geïsoleerde splenomegalie.
Ned Tijdschr Geneeskd
; 152(2): 116-7; author reply 117, 2008 Jan 12.
Artigo
em Holandês
| MEDLINE | ID: mdl-18265805
14.
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.
JIMD Rep
; 9: 117-120, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430557
15.
Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression.
Bone Marrow Transplant
; 39(5): 309-10, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17237829
16.
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.
J Inherit Metab Dis
; 28(6): 979-90, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16435191