(Q24794707)

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An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria (English)

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1 reference

maternal phenylketonuria

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Ina Knerr

1

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Johannes Zschocke

series ordinal

2

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Stefan Schellmoser

series ordinal

3

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Hans G Topf

series ordinal

4

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Corina Weigel

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5

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Jörg Dötsch

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6

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Wolfgang Rascher

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7

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language of work or name

English

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publication date

2005

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published in

BMC Pediatrics

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volume

5

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issue

1

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page(s)

5

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https://scigraph.springernature.com/pub.10.1186/1471-2431-5-5

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9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2431-5-5

cites work

Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

7 April 2017

The Maternal Phenylketonuria International Study: 1984-2002.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

28 September 2017

Phenylketonuria mutations in Europe

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

28 September 2017

Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

28 September 2017

Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

30 May 2018

Mental Retardation in Children of Phenylketonuric Mothers

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

30 May 2018

Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1186%2F1471-2431-5-5

retrieved

21 January 2018

Maternal phenylketonuria: experiences from the United Kingdom

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079877

retrieved

28 November 2018

Identifiers

DOI

10.1186/1471-2431-5-5

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Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2431-5-5

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ResearchGate publication ID

7925580

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(Q24794707)

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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