(Q33668023)

28 July 2017

title

Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship (English)

1 reference

28 July 2017

1 reference

Harper PS

1

1 reference

28 July 2017

Marks R

series ordinal

2

1 reference

28 July 2017

Dykes PJ

series ordinal

3

1 reference

28 July 2017

Young ID

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1980

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

17

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

212-215

1 reference

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

The olivopontocerebellar atrophies: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

Enzymatic basis of typical X-linked icthyosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

Erythrokeratodermia with ataxia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

On familial ataxia, neural amyotrophy, and their association with progressive external ophthalmoplegia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048549

Adult-onset hereditary cerebellar ataxia and neurosensory deafness

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7401132

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1048549

1 reference

28 July 2017

1 reference