(Q37662253)

21 August 2017

1 reference

title

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails (English)

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non-immune hydrops fetalis

21 August 2017

1 reference

1 reference

1 reference

Ali Dursun

1

1 reference

21 August 2017

Safak Gucer

2

1 reference

21 August 2017

M S Ebberink

3

1 reference

21 August 2017

Sule Yigit

4

1 reference

21 August 2017

R J A Wanders

5

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21 August 2017

H R Waterham

6

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21 August 2017

publication date

23 December 2009

1 reference

Journal of Inherited Metabolic Disease

21 August 2017

published in

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21 August 2017

volume

32 Suppl 1

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21 August 2017

page(s)

S345-8

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https://scigraph.springernature.com/pub.10.1007/s10545-009-9010-0

21 August 2017

exact match

0 references

cites work

PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

Fetomaternal haemorrhage and prenatal intracranial bleeding: two more causes of blueberry muffin baby.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-9010-0

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

21 January 2018

1 reference

12 December 2020

Diagnosis and management of non-immune hydrops in the newborn

1 reference

12 December 2020

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis

1 reference

12 December 2020

Nonimmune hydrops fetalis

1 reference

12 December 2020

10.1007/S10545-009-9010-0

Identifiers

DOI

1 reference

21 August 2017

1 reference