(Q44018331)

29 November 2017

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction (English)

1 reference

congenital rubella syndrome

29 November 2017

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1 reference

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10

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29 November 2017

Pike MG

1

1 reference

29 November 2017

Applegarth DA

2

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29 November 2017

Dunn HG

3

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29 November 2017

Bamforth SJ

4

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29 November 2017

Tingle AJ

5

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29 November 2017

Wood BJ

6

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29 November 2017

Dimmick JE

7

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29 November 2017

Harris H

8

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29 November 2017

Chantler JK

9

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29 November 2017

language of work or name

English

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publication date

1 January 1990

1 reference

The Journal of Pediatrics

29 November 2017

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29 November 2017

116

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29 November 2017

1

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29 November 2017

88-94

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Congenital rubella syndrome as a systemic infection. Studies of affected infants born in Philadelphia, U.S.A.

29 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Delayed manifestations of congenital rubella

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Arthrogryposis multiplex congenita. Case due to disease of the anterior horn cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Prospective Immunological Assessment of Arthritis Induced by Rubella Vaccine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Postpartum rubella immunization: association with development of prolonged arthritis, neurological sequelae, and chronic rubella viremia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Persistent rubella infection and rubella-associated arthritis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Subcellular distribution of enzymes determined by rapid digitonin fractionation of isolated hepatocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Peroxisomes in fibroblasts from skin of Refsum's disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Heterogeneity of Chondrodysplasia punctata

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

The peroxisome: nervous system role of a previously underrated organelle. The 1987 Robert Wartenberg lecture

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Peroxisomal disorders. Biochemical and clinical diagnostic considerations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Adrenoleukodystrophy and other peroxisomal disorders that affect the nervous system, including new observations on L-pipecolic acid oxidase in primates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981651-8

10.1016/S0022-3476(05)81651-8

7 January 2021

Identifiers

DOI

1 reference

29 November 2017

1 reference