(Q71708149)

English

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies

scientific article published on 01 March 1996

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8882397%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8882397%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

rhizomelic chondrodysplasia punctata

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based on heuristic

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author name string

Barth PG

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8882397%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Wanders RJ

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8882397%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Schutgens RB

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8882397%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Staalman CR

4

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20 October 2019

publication date

1 March 1996

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20 October 2019

American Journal of Medical Genetics Part A

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20 October 2019

62

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20 October 2019

2

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20 October 2019

164-168

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20 October 2019

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

1 reference

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21 January 2018

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

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21 January 2018

Differential protein import deficiencies in human peroxisome assembly disorders

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Chondrodysplasia punctata with a mild clinical course

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Prenatal and perinatal diagnosis of peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960315%2962%3A2%3C164%3A%3AAID-AJMG9%3E3.0.CO%3B2-W

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960315)62:2<164::AID-AJMG9>3.0.CO;2-W

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8882397%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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