(Q52179869)

26 April 2018

title

Medical complications in long-term survivors with X-linked myotubular myopathy. (English)

1 reference

26 April 2018

author name string

Herman GE

1

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26 April 2018

Finegold M

2

1 reference

26 April 2018

Zhao W

3

1 reference

26 April 2018

de Gouyon B

4

1 reference

26 April 2018

Metzenberg A

5

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26 April 2018

language of work or name

English

0 references

publication date

1 February 1999

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26 April 2018

The Journal of Pediatrics

published in

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26 April 2018

volume

134

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26 April 2018

page(s)

206-214

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26 April 2018

issue

2

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26 April 2018

Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

X-linked myotubular myopathy: clinical observations in ten additional cases

7 January 2021

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The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Association of SET domain and myotubularin-related proteins modulates growth control

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

58th ENMC workshop: myotubular myopathy 20-22 March, 1998, Naarden, The Netherlands

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Pruritus associated with cholestasis. A review of pathogenesis and management

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

X-linked myotubular myopathy--a long-term follow-up study

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Liver pathology associated with the use of anabolic-androgenic steroids

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

7 January 2021

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

inferred from DOI database lookup

7 January 2021

based on heuristic

MR findings in peliosis hepatis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Ultrasonographic findings in a case of congenital peliosis hepatitis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Focal peliosis hepatis, a sequela of asphyxial death?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970417-8

10.1016/S0022-3476(99)70417-8

7 January 2021

Identifiers

DOI

1 reference

26 April 2018

PubMed ID

9931531

1 reference

26 April 2018