(Q24626391)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Neonatal diagnosis and treatment of Menkes disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

0 references

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Stephen G Kaler

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Courtney S Holmes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

David S Goldstein

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Jingrong Tang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Sarah C Godwin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Clarissa J Liew

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Susumu Sato

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Nicholas Patronas

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

language of work or name

English

0 references

publication date

1 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

The New England Journal of Medicine

2 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

358

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

605-614

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis

2 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Isolation of a partial candidate gene for Menkes disease by positional cloning

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Primary defect in copper transport underlies mottled mutants in the mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

NMDA receptor activation mediates copper homeostasis in hippocampal neurons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Functional copper transport explains neurologic sparing in occipital horn syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Menkes Kinky Hair Syndrome: Is it a treatable disorder?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Sequence, mapping and disruption of CCC2, a gene that cross-complements the Ca(2+)-sensitive phenotype of csg1 mutants and encodes a P-type ATPase belonging to the Cu(2+)-ATPase subfamily.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Difficulties in the neonatal diagnosis of Menkes' kinky hair syndrome--trichopoliodystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

The Denver II: a major revision and restandardization of the Denver Developmental Screening Test

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Menkes disease mutations and response to early copper histidine treatment.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Downregulation of myelination, energy, and translational genes in Menkes disease brain

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Study of the neurotransmitter dopamine and the neurotoxin 6-hydroxydopamine by electrospray ionization coupled with tandem mass spectrometry

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477514

Urinary beta 2-microglobulin: early indicator of high dose cisdiamminedichloroplatinum nephrotoxicity? Influence of furosemide

28 November 2018

1 reference

12 December 2020

Age- and sex-specific pediatric reference intervals and correlations for zinc, copper, selenium, iron, vitamins A and E, and related proteins

1 reference

12 December 2020

Menkes' disease: long-term treatment with copper and D-penicillamine

1 reference

12 December 2020

Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration

1 reference

12 December 2020

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

1 reference

12 December 2020

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

1 reference

12 December 2020

Copper-histidine treatment of Menkes disease

1 reference

12 December 2020

1 reference

12 December 2020

Early copper-histidine treatment for Menkes disease

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA070613

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256395%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

18256395

2 references