(Q57386868)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2452243%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

title

Biochemical abnormalities in rhizomelic chondrodysplasia punctata (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2452243%20AND%20SRC:MED&resulttype=core&format=json

rhizomelic chondrodysplasia punctata

29 September 2019

main subject

1 reference

9

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29 September 2019

author name string

G Hoefler

1

1 reference

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29 September 2019

S Hoefler

2

1 reference

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29 September 2019

P A Watkins

3

1 reference

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29 September 2019

W W Chen

4

1 reference

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29 September 2019

A Moser

5

1 reference

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29 September 2019

V Baldwin

6

1 reference

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29 September 2019

B McGillivary

7

1 reference

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29 September 2019

J Charrow

8

1 reference

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29 September 2019

L Rutledge

10

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29 September 2019

language of work or name

English

0 references

publication date

1 May 1988

1 reference

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The Journal of Pediatrics

29 September 2019

published in

1 reference

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29 September 2019

volume

112

1 reference

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29 September 2019

issue

5

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29 September 2019

page(s)

726-733

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Maternal and fetal sequelae of anticoagulation during pregnancy

29 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Heterogeneity of Chondrodysplasia punctata

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

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%2888%2980689-9

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%2888%2980689-9

Primary hyperparathyroidism associated with pancytosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

New approaches in peroxisomal disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Lysosomes of the arterial wall. I. Isolation and subcellular fractionation of cells from normal rabbit aorta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

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%2888%2980689-9

Determination of pipecolic acid in urine and plasma by isotope dilution mass fragmentography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

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%2888%2980689-9

Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

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%2888%2980689-9

Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

7 January 2021

Peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980689-9

10.1016/S0022-3476(88)80689-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2452243%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

1 reference