Found: 26
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Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 864, doi. 10.1023/A:1005426920116
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- Article
In vivo methods useful for therapy monitoring in lactic acidosis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 691, doi. 10.1023/A:1005409323161
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- Article
Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 262, doi. 10.1023/A:1005324323401
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- Article
The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 210, doi. 10.1023/A:1005339332062
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- Article
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.
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- 2000
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- journal article
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
- Published in:
- 1999
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- Publication type:
- journal article
Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, n. 12, p. 931, doi. 10.1007/s004310050745
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- Article
Myopathy in a Haflinger horse: An initiating search for a fatty acid oxidation deficiency.
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- Equine Veterinary Education, 2008, v. 20, n. 10, p. 532, doi. 10.2746/095777308X343176
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- Article
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.
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- Prenatal Diagnosis, 2002, v. 22, n. 5, p. 433, doi. 10.1002/pd.335
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- Article
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
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- 1997
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- journal article
Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
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- Acta Neurologica Scandinavica, 1985, v. 72, n. 1, p. 36, doi. 10.1111/j.1600-0404.1985.tb01545.x
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- Article
In vivo induced malignant hyperthermia in pigs. III. Localization of calcium in skeletal muscle mitochondria by means of electronmicroscopy and microprobe analysis.
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- 1984
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- Publication type:
- journal article
In VivoInduced Malignant Hyperthermia in Pigs. III. Localization of Calcium in Skeletal Muscle Mitochondria by Means of Electronmicroscopy and Microprobe Analysis.
- Published in:
- Acta Anaesthesiologica Scandinavica, 1984, v. 28, n. 1, p. 14, doi. 10.1111/j.1399-6576.1984.tb02003.x
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- Article
In vivo induced malignant hyperthermia in pigs. II. Metabolism of skeletal muscle mitochondria.
- Published in:
- 1984
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- Publication type:
- journal article
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.
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- Brain: A Journal of Neurology, 1996, v. 119, n. 3, p. 997, doi. 10.1093/brain/119.3.997
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- Article
Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency.
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- 1993
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- Publication type:
- journal article
A mitochondrial myopathy in an infant with lactic acidosis.
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- 1990
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- Publication type:
- journal article
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases.
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- 1989
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- journal article
Hypokinesia and Rigidity as Clinical Manifestations of Mitochondrial Encephalomyopathy: Report of Three Cases.
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- Developmental Medicine & Child Neurology, 1989, v. 31, n. 1, p. 81, doi. 10.1111/j.1469-8749.1989.tb08415.x
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- Article
Supplemental oxygen prevents exercise-induced oxidative stress in muscle-wasted patients with chronic obstructive pulmonary disease.
- Published in:
- 2006
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- Publication type:
- Journal Article
Extended Thiopurine Metabolite Assessment During 6-Thioguanine Therapy for Immunomodulation in Crohn’s Disease.
- Published in:
- Journal of Clinical Pharmacology, 2007, v. 47, n. 2, p. 187, doi. 10.1177/0091270006294403
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- Article
Extended thiopurine metabolite assessment during 6-thioguanine therapy for immunomodulation in Crohn's disease.
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- 2007
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- Publication type:
- Journal Article
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
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- 1999
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- journal article
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
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- Annals of Neurology, 1997, v. 42, n. 4, p. 661, doi. 10.1002/ana.410420419
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- Article
Positron emission tomography and magnetic resonance spectroscopy of cerebral glycolysis in children with congenital lactic acidosis.
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- 1995
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- Publication type:
- journal article
Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia.
- Published in:
- Annals of Neurology, 1984, v. 16, n. 2, p. 262, doi. 10.1002/ana.410160220
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- Article