Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise
about
Mitochondrial myopathy: a genetic study of 71 casesHuman mitochondrial complex I in health and diseaseSengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesLack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.Reye's syndrome; diagnosis by muscle biopsy?Neonatal cataract: aetiology, pathogenesis and management.Mitochondrial myopathy with respiratory muscle involvement: a case report.Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Looking Beyond Structure: Membrane Phospholipids of Skeletal Muscle Mitochondria.Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.Mutation in the AGK gene in two siblings with unusual Sengers syndrome.AGK:Mg2+ phosphorylates MAG; DAGExtending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.
P2860
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P2860
Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise
description
1975 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1975
@ast
im Juni 1975 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1975/06/01)
@sk
vědecký článek publikovaný v roce 1975
@cs
wetenschappelijk artikel (gepubliceerd op 1975/06/01)
@nl
наукова стаття, опублікована в червні 1975
@uk
مقالة علمية (نشرت في يونيو 1975)
@ar
name
Congenital cataract and mitoch ...... lactic acidosis after exercise
@ast
Congenital cataract and mitoch ...... lactic acidosis after exercise
@en
Congenital cataract and mitoch ...... lactic acidosis after exercise
@nl
type
label
Congenital cataract and mitoch ...... lactic acidosis after exercise
@ast
Congenital cataract and mitoch ...... lactic acidosis after exercise
@en
Congenital cataract and mitoch ...... lactic acidosis after exercise
@nl
prefLabel
Congenital cataract and mitoch ...... lactic acidosis after exercise
@ast
Congenital cataract and mitoch ...... lactic acidosis after exercise
@en
Congenital cataract and mitoch ...... lactic acidosis after exercise
@nl
P2093
P1476
Congenital cataract and mitoch ...... lactic acidosis after exercise
@en
P2093
A. M. Stadhouders
J. L. Willems
J. M. Trijbels
O. Daniels
R. C. Sengers
P304
P356
10.1016/S0022-3476(75)80217-4
P407
P577
1975-06-01T00:00:00Z