Mitochondrial disease and endocrine dysfunction (Q38800022)

6 September 2017

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title

Mitochondrial disease and endocrine dysfunction (English)

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6 September 2017

mitochondrial disease

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3

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6 September 2017

Jasmine Chow

1

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6 September 2017

Joyeeta Rahman

series ordinal

2

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6 September 2017

Mehul T Dattani

series ordinal

4

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6 September 2017

Shamima Rahman

series ordinal

5

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6 September 2017

language of work or name

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7 October 2016

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Nature Reviews Endocrinology

6 September 2017

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6 September 2017

13

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6 September 2017

92-104

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6 September 2017

2

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https://scigraph.springernature.com/pub.10.1038/nrendo.2016.151

6 September 2017

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cites work

Mitochondrial disorders: prevalence, myths and advances.

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https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Oxidative stress and mitochondrial dysfunction across broad-ranging pathologies: toward mitochondria-targeted clinical strategies

21 January 2018

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ESCI Award 2006. Mitochondrial function and endocrine diseases

21 January 2018

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Steroid hormone synthesis in mitochondria

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Universal heteroplasmy of human mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Endocrine disorders in mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Specific metabolic rates of major organs and tissues across adulthood: evaluation by mechanistic model of resting energy expenditure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

A functionally dominant mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Clinical presentation of mitochondrial disorders in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial function and insulin secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial diabetes: molecular mechanisms and clinical presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

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/10.1038%2FNRENDO.2016.151

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial diabetes and its lessons for common Type 2 diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Abnormal hepatic energy homeostasis in type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Maternally inherited diabetes and deafness: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Pearson's marrow/pancreas syndrome: a histological and genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

MELAS: a nationwide prospective cohort study of 96 patients in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The thiazolidinedione pioglitazone alters mitochondrial function in human neuron-like cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Thiazolidinediones, like metformin, inhibit respiratory complex I: a common mechanism contributing to their antidiabetic actions?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Abnormal growth in mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

SURF1 deficiency: a multi-centre natural history study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Endocrine dysfunction in Kearns-Sayre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Endocrine disorders in two sisters affected by MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Growth hormone deficiency in a patient with mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Genetic causes of human reproductive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Early steps in steroidogenesis: intracellular cholesterol trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Gonadal dysfunction in mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Recessive twinkle mutations cause severe epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The unfolding clinical spectrum of POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Novel (ovario) leukodystrophy related to AARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

POLG mutations and age at menopause.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Human ovarian aging and mitochondrial DNA deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial DNA in the oocyte and the developing embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The aging oocyte--can mitochondrial function be improved?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

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/10.1038%2FNRENDO.2016.151

Large mitochondrial DNA deletion in an infant with addison disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Adrenal insufficiency in a child with MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Role of mitochondria in steroidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Oxidative stress and adrenocortical insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Biochemical analysis of the G517V POLG variant reveals wild-type like activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Kearns-sayre syndrome. Two clinico-pathological cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Kearns-Sayre syndrome with hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial tubulopathy: the many faces of mitochondrial disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Renal involvement in mitochondrial cytopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Thyroid disease awareness is associated with high rates of identifying subjects with previously undiagnosed thyroid dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Prevalence and progression of diabetes in mitochondrial disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Diabetes mellitus in Kearns-Sayre syndrome: a case with a 10-year follow-up

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Cardiac autonomic nervous dysfunction in diabetic patients with a mitochondrial DNA mutation: assessment by heart rate variability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Left ventricular hypertrophy and diastolic dysfunction in mitochondrial diabetes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Growth hormone deficiency in mitochondrial cytopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Variable outcome of growth hormone administration in respiratory chain deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Expanding the genotypic spectrum of Perrault syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Myoclonus, cerebellar disorder, neuropathy, mitochondria1 myopathy, and ACTH deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.151

Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies.

31 March 2020

1 reference

12 December 2020

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

1 reference

12 December 2020

Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report

1 reference

12 December 2020

Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.

1 reference

12 December 2020

Oculocraniosomatic neuromuscular disease with hypoparathyroidism.

1 reference

12 December 2020

Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS

1 reference

12 December 2020

1 reference

12 December 2020

Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome.

1 reference

12 December 2020

Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia

1 reference

12 December 2020

Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan

1 reference

12 December 2020

[Kearns-Sayre syndrome with GH deficiency]

1 reference

12 December 2020

Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively.

1 reference

12 December 2020

Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid

1 reference

12 December 2020

Hypothalamic amenorrhea in a case of mitochondrial encephalomyopathy.

1 reference

12 December 2020

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

1 reference

12 December 2020

A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome

1 reference

12 December 2020

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

1 reference

12 December 2020

Long-term growth hormone therapy in mitochondrial cytopathy.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRENDO.2016.151

1 reference

Dimensions Publication ID

6 September 2017

0 references

1 reference