Hypoparathyroidism in mitochondrial trifunctional protein deficiency (Q57588464)

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18 October 2019

title

Hypoparathyroidism in mitochondrial trifunctional protein deficiency (English)

1 reference

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mitochondrial trifunctional protein deficiency

18 October 2019

main subject

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Trifunctional protein deficiency

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1

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18 October 2019

Barbara Garavaglia

2

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18 October 2019

Enrico Bertini

4

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18 October 2019

author name string

A B Burlina

3

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18 October 2019

I Saponara

5

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18 October 2019

G Sabetta

6

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18 October 2019

F Taroni

7

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18 October 2019

language of work or name

English

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publication date

1 July 1996

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The Journal of Pediatrics

18 October 2019

published in

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18 October 2019

volume

129

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18 October 2019

issue

1

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18 October 2019

page(s)

159-162

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Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

18 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Combined enzyme defect of mitochondrial fatty acid oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Hypocalcemic myopathy in idiopathic hypoparathyroidism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Endocrine dysfunction in Kearns-Sayre syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970206-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(96)70206-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8757579%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference