Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
about
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseRenal manifestations of primary mitochondrial disorders.Mitochondrial dysfunction in inherited renal disease and acute kidney injurySURF1 deficiency: a multi-centre natural history study.Mitochondrial dysfunction in the pathophysiology of renal diseases.Renal manifestations of genetic mitochondrial disease.Metabolism and homeostasis in the kidney: metabolic regulation through insulin signaling in the kidney.Mitochondrial disease--an important cause of end-stage renal failure.Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
P2860
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P2860
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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2005年學術文章
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name
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@en
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@nl
type
label
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@en
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@nl
prefLabel
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@en
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@nl
P2093
P2860
P1476
Unusual clinical presentations ...... ncy, and SURF1 gene mutations.
@en
P2093
Augusto Morales
Darryl C De Vivo
Eduardo Bonilla
H Ohran Akman
Judith F Morales
Sabrina Sacconi
Sara Shanske
Stacey K H Tay
P2860
P304
P356
10.1177/08830738050200080701
P577
2005-08-01T00:00:00Z