(Q35037640)

5 August 2017

1 reference

title

Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy (English)

1 reference

5 August 2017

David A Wenger

1

1 reference

5 August 2017

Stephanie Coppola

series ordinal

2

1 reference

5 August 2017

Shu-Ling Liu

series ordinal

3

1 reference

5 August 2017

language of work or name

English

0 references

publication date

1 November 2002

1 reference

5 August 2017

1 reference

5 August 2017

4

1 reference

5 August 2017

6

1 reference

5 August 2017

412-419

1 reference

https://scigraph.springernature.com/pub.10.1097/00125817-200211000-00003

5 August 2017

0 references

cites work

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Incidence of the mucopolysaccharidoses in Northern Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Dominant inheritance of sialuria, an inborn error of feedback inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Preimplantation genetic diagnosis: strategies and surprises

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Enzyme-replacement therapy in mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Enzyme therapy for Gaucher disease: the first 5 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Extensive beta-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Primary adult human astrocytes as an ex vivo vehicle for beta-glucuronidase delivery in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Herpes virus vectors for gene therapy in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

New prospects for human stem-cell therapy in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Mammalian neural stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Stem cells--hype and hope.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Metachromatic leukodystrophy without arylsulfatase A deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Pseudodeficiency of arylsulfatase A: a counseling dilemma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200211000-00003

10.1097/00125817-200211000-00003

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference