about
Kearns-Sayre syndrome: a case series of 35 adults and childrenWhen should a rheumatologist suspect a mitochondrial myopathy?Blood metabolite data in response to maximal exercise in healthy subjects.Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases.Animal models of human mitochondrial DNA mutations.Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeRecurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.Metabolic myopathies: functional evaluation by different exercise testing approaches.Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Exercise in neuromuscular disease.Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.Acute rhabdomyolysis and inflammation.Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review.Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy.The investigation and management of metabolic myopathies.Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature.Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.Metabolic myopathy presenting with polyarteritis nodosa: a case report.Deletion of heart-type cytochrome c oxidase subunit 7a1 impairs skeletal muscle angiogenesis and oxidative phosphorylation.Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
P2860
Q33164555-F438633F-AFCA-45E5-8556-B9D648EA0161Q34060347-0D2761C7-D7EB-4132-A468-8F46D1E476C1Q34297648-57E052C1-D655-4EE9-A1D9-7731CF0E2E21Q34606887-1DC7933D-74B0-442C-A45B-B201CDCBB070Q35645375-AEFF1930-6A24-4C08-A02C-A1208FECEFF4Q37011332-3736BC77-AEEA-4A7E-8A08-90ED5FE71FACQ37304656-ECC7712F-4C8A-4ADC-B346-A47A756E9A2CQ37533307-9747B3D4-6E66-4D0A-9779-923BC472FA01Q37849644-DF710E0C-D9F8-4B70-BF3A-ABC70DA0023FQ38072715-B115850D-FF86-4D23-830A-E2B1511F3EDCQ38108541-A7B18648-0C7A-4EF6-8C48-01E026F9C462Q38223684-62DFC65E-2E2B-4E61-886D-05B506214244Q38336518-0A76B1B9-5637-43F2-8A70-7F842243D5C3Q38380755-2996F008-CB40-40AB-8847-9EB4F7BD57D0Q38816760-BECDFDA3-C1B4-4B27-8F2B-63750E94832DQ38970382-04A58936-3CEA-4416-8724-C57692F75B18Q39256298-A6DE3788-4A09-4C4B-AEAB-42335054EF6EQ41330451-019F8B9F-CD3C-4F18-B71B-D654A1D02DB6Q41558371-D9C90A3B-AEF4-419B-B338-3E5B9CCC4639Q42663763-04A00CC3-A842-422B-A0B5-0A8BD5666DE5Q42852551-F42E37A1-0389-4A0D-B368-5C5A1A760E7DQ45364270-FF8B61E2-B987-4221-8988-4EAEBD8E4B20Q47980006-984212C6-F262-4EED-A40C-E770DE457BC3
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A diagnostic algorithm for metabolic myopathies
@en
A diagnostic algorithm for metabolic myopathies.
@nl
type
label
A diagnostic algorithm for metabolic myopathies
@en
A diagnostic algorithm for metabolic myopathies.
@nl
prefLabel
A diagnostic algorithm for metabolic myopathies
@en
A diagnostic algorithm for metabolic myopathies.
@nl
P2860
P1476
A diagnostic algorithm for metabolic myopathies
@en
P2093
Andres Berardo
Michio Hirano
P2860
P2888
P304
P356
10.1007/S11910-010-0096-4
P577
2010-03-01T00:00:00Z