(Q43947394)

28 November 2017

Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures (English)

1 reference

28 November 2017

1 reference

P Volders

1

1 reference

28 November 2017

J Van Hove

2

1 reference

28 November 2017

R J U Lories

3

1 reference

28 November 2017

Ph Vandekerckhove

4

1 reference

28 November 2017

G Matthijs

5

1 reference

28 November 2017

R De Vos

6

1 reference

28 November 2017

M T Vanier

7

1 reference

28 November 2017

M F Vincent

8

1 reference

28 November 2017

R Westhovens

9

1 reference

28 November 2017

F P Luyten

10

1 reference

28 November 2017

language of work or name

1 reference

1 April 2002

1 reference

American Journal of Medical Genetics Part A

28 November 2017

1 reference

28 November 2017

109

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28 November 2017

1

1 reference

28 November 2017

42-51

1 reference

Genetic aspects of osteoporosis

28 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Case report. Pulmonary involvement in Niemann-Pick disease subtype B: CT findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Inhibition of lysosomal acid sphingomyelinase by agents which reverse multidrug resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Early and late postmenopausal bone loss is associated with BsmI vitamin D receptor gene polymorphism in Japanese women.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

An update of the enzymology and regulation of sphingomyelin metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Overview of bisphosphonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10278

21 January 2018

Identifiers

DOI

10.1002/AJMG.10278

1 reference

28 November 2017

1 reference