(Q28304229)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17535268%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17535268%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

0 references

1 reference

2

1 reference

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31 December 2019

Amelia Morrone

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17535268%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Giancarlo la Marca

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17535268%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Maurizio Genuardi

9

1 reference

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31 December 2019

author name string

Malvagia S

1

1 reference

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31 December 2019

Donati MA

4

1 reference

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31 December 2019

Ciani F

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17535268%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Pasquini E

6

1 reference

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31 December 2019

Scholte HR

8

1 reference

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31 December 2019

Zammarchi E

10

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31 December 2019

language of work or name

English

0 references

publication date

29 May 2007

1 reference

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31 December 2019

published in

Annals of Human Genetics

1 reference

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31 December 2019

volume

71

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31 December 2019

page(s)

705-712

1 reference

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31 December 2019

issue

Pt 6

1 reference

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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.2007.00373.X

The molecular basis of malonyl-CoA decarboxylase deficiency.

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.2007.00373.X

A novel brain-expressed protein related to carnitine palmitoyltransferase I

21 April 2017

1 reference

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MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.2007.00373.X

Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.2007.00373.X

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Fatal neonatal malonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Maternal uniparental disomy of chromosome 16 and body stalk anomaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Antenatal presentation of carnitine palmitoyltransferase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Uniparental disomies in unselected populations

21 January 2018

1 reference

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Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00373.X