(Q42260048)

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The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

scientific article published on 16 February 2010

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scholarly article

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Europe PubMed Central

PMC publication ID

19 October 2017

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach (English)

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Europe PubMed Central

PMC publication ID

19 October 2017

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Francesco Salvatore

12

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Europe PubMed Central

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19 October 2017

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Giulia Frisso

8

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Francesca Catanzano

1

1 reference

Europe PubMed Central

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19 October 2017

Daniela Ombrone

2

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Europe PubMed Central

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19 October 2017

Cristina Di Stefano

3

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Europe PubMed Central

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19 October 2017

Anna Rossi

4

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Europe PubMed Central

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19 October 2017

Norberto Nosari

5

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Europe PubMed Central

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19 October 2017

Emanuela Scolamiero

6

1 reference

Europe PubMed Central

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19 October 2017

Igor Tandurella

7

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Europe PubMed Central

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19 October 2017

Giancarlo Parenti

9

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Europe PubMed Central

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19 October 2017

Margherita Ruoppolo

10

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Europe PubMed Central

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19 October 2017

Generoso Andria

11

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19 October 2017

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publication date

16 February 2010

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19 October 2017

Journal of Inherited Metabolic Disease

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19 October 2017

33 Suppl 3

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19 October 2017

S91-4

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Europe PubMed Central

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19 October 2017

Mass spectrometry in newborn and metabolic screening: historical perspective and future directions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

26 October 2017

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

26 October 2017

Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

26 October 2017

Inborn errors of isoleucine degradation: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

26 October 2017

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

26 October 2017

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

26 October 2017

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

17 August 2018

Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757262

17 August 2018

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report

1 reference

https://pubmed.ncbi.nlm.nih.gov/20157782

12 December 2020

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10.1007/S10545-009-9028-3

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Europe PubMed Central

PMC publication ID

19 October 2017

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

PubMed publication ID

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Europe PubMed Central

PMC publication ID

19 October 2017

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