Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
- Published in:
- 2007
- Publication type:
- Abstract
Works matching IS 14730901 AND DT 2007 AND VI 7 AND IP 1
Results: 33
1
2
Genetically engineered human neural stem cells for brain repair in neurological diseases.
- Published in:
- 2007
- Publication type:
- Abstract
3
Correction of hemophilia as a proof of concept for treatment of monogenic diseases by fetal spleen transplantation.
- Published in:
- 2007
- Publication type:
- Abstract
4
Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II.
- Published in:
- 2007
- Publication type:
- Abstract
5
Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation.
- Published in:
- 2007
- Publication type:
- Abstract
6
Cellular and tissue distribution of intravenously administered agalsidase alfa.
- Published in:
- 2007
- Publication type:
- Abstract
7
Agalsidase-beta therapy for advanced Fabry disease.
- Published in:
- 2007
- Publication type:
- Abstract
8
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
- Published in:
- 2007
- Publication type:
- Abstract
9
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
- Published in:
- 2007
- Publication type:
- Abstract
10
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 26
- Publication type:
- Article
11
Correction of cardiac abnormalities in fabry mice by direct intraventricular injection of a recombinant lentiviral vector that engineers expression of alpha-galactosidase.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 25
- Publication type:
- Article
12
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 24
- Publication type:
- Article
13
Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 21
- Publication type:
- Article
14
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 22
- Publication type:
- Article
15
Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 23
- Publication type:
- Article
16
Molecular misreading: the occurrence of frameshift proteins in different diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 22
- Publication type:
- Article
17
Genetic basis of hypertrophic cardiomyopathy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 22
- Publication type:
- Article
18
Distribution of α-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant α-galactosidase A in Fabry mice.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 23
- Publication type:
- Article
19
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 20
- Publication type:
- Article
20
Cerebral infarction in Hunter syndrome.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 20
- Publication type:
- Article
21
Myeloperoxidase predicts risk of vasculopathic events in hemizygous males with Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 19
- Publication type:
- Article
22
Management of patients with Gaucher's disease: clinical perspectives.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 19
- Publication type:
- Article
23
Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry's disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 19
- Publication type:
- Article
24
Subcortical damage and cortical functional changes in mean and women with Fabry Disease.
- Published in:
- 2007
- Publication type:
- Abstract
25
Syncope, other risk factors, and the implantable defibrillator for sudden death prevention in hypertrophic cardiomyopathy.
- Published in:
- 2007
- Publication type:
- Abstract
26
The spectrum of neurodegeneration in children.
- Published in:
- 2007
- Publication type:
- Abstract
27
Gross motor abilities in children with Hurler syndrome.
- Published in:
- 2007
- Publication type:
- Abstract
28
Peripheral neuropathy in Krabbe disease: electrodiagnostic findings.
- Published in:
- 2007
- Publication type:
- Abstract
29
The natural history of juvenile or subacute G<sub>M2</sub> gangliosidosis: 21 new cases and literature review of 134 previously reported.
- Published in:
- 2007
- Publication type:
- Abstract
30
Chitotriosidase: the yin and yang.
- Published in:
- 2007
- Publication type:
- Abstract
31
Pediatric Quality of Life in Anderson-Fabry Disease: A Review.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 8
- By:
- Publication type:
- Article
32
Home Therapy for Lysosomal Storage Diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 1
- By:
- Publication type:
- Article
33
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. IV
- Publication type:
- Article