Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 34
- Publication type:
- Article
Works matching IS 14730901 AND DT 2011 AND VI 9 AND IP 1
Results: 28
1
2
Imaging of enzyme replacement therapy using PET.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 34
- Publication type:
- Article
3
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 33
- Publication type:
- Article
4
A randomized study of alglucosidase alfa in late-onset Pompes disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 32
- Publication type:
- Article
5
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 31
- Publication type:
- Article
6
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48 month experience.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 31
- Publication type:
- Article
7
[1] Miglustat in patients with Niemann-Pick disease type C (NP-C): a multicenter observational retrospective cohort study/[2] Long-term miglustat therapy in children with Niemann-Pick disease type C/[3] Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 29
- Publication type:
- Article
8
Pre-transplant risk factors affecting outcome in Hurler syndrome.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 28
- Publication type:
- Article
9
Cell therapy for cystinosis.
- Published in:
- 2011
- Publication type:
- Opinion
10
Stem cell transplantation for neurometabolic and neurodegenerative diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 27
- Publication type:
- Article
11
Expanding spectrum of the association between type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types correlation with genotype and phenotype.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 26
- Publication type:
- Article
12
Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseasescausing nonsense mutations.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 26
- Publication type:
- Article
13
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.
- Published in:
- 2011
- Publication type:
- Case Study
14
Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 24
- Publication type:
- Article
15
Age adjusting severity scores for AndersonFabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 23
- Publication type:
- Article
16
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 22
- Publication type:
- Article
17
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 22
- Publication type:
- Article
18
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 21
- Publication type:
- Article
19
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
- Published in:
- 2011
- Publication type:
- Opinion
20
Misdiagnosis in Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 20
- Publication type:
- Article
21
Plasma globotriaosylsphingosine as a biomarker of Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 19
- Publication type:
- Article
22
Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of Fabry mice.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 19
- Publication type:
- Article
23
Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse models.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 18
- Publication type:
- Article
24
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 18
- Publication type:
- Article
25
Macroautophagy is defective in mucolipin-1-deficient mouse neurons.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 17
- Publication type:
- Article
26
Enzyme Replacement Therapy for Cognitive Decline in Mucopolysaccharidosis Type I: Past, Present, and Future.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 9
- By:
- Publication type:
- Article
27
Pompe Disease and the Contribution of Autophagy to its Pathogenesis.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 1
- By:
- Publication type:
- Article
28
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 1
- Publication type:
- Article