Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature (Q38504993)

3 September 2017

1 reference

title

Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature (English)

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mitochondrial encephalomyopathy

3 September 2017

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based on heuristic

inferred from title

adrenal insufficiency

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Ingrid A Holm

2

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author name string

Laurel Calderwood

series ordinal

1

1 reference

PubMed ID

26018198

3 September 2017

Lisa A Teot

series ordinal

3

1 reference

PubMed ID

26018198

3 September 2017

Irina Anselm

series ordinal

4

1 reference

3 September 2017

26 May 2015

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Journal of Child Neurology

3 September 2017

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3 September 2017

31

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3 September 2017

190-194

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3 September 2017

2

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The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

3 September 2017

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Insights on augmenter of liver regeneration cloning and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Structure of the Human Sulfhydryl Oxidase Augmenter of Liver Regeneration and Characterization of a Human Mutation Causing an Autosomal Recessive Myopathy,

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Endocrine disorders in mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Large mitochondrial DNA deletion in an infant with addison disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Adrenal insufficiency in a child with MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

Oxidative phosphorylation defect associated with primary adrenal insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587327

21 January 2018

Identifiers

DOI

10.1177/0883073815587327

1 reference

3 September 2017

1 reference

PubMed ID

26018198