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Moonlighting proteins / Chemistry / Pyruvate dehydrogenase deficiency / Pyruvate dehydrogenase / Dihydrolipoyl transacetylase / Inborn errors of carbohydrate metabolism / Pyruvate carboxylase / Lactic acidosis / Lipoic acid / Mitochondrial diseases / Health / Biology


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City

Wexler / Oxford / Tokyo / /

Company

Wellcome Trust / Agroup / R M Brown Genetics Laboratory / HP / MacMillan / /

Country

United Kingdom / /

Event

Product Issues / /

Facility

Institute of Child Health / University of Oxford / PDH complex / University of London / /

IndustryTerm

mitochondrial energy metabolism / energy generation / energy substrates / energy / energy requirements / carboxyl / restriction site / energy metabolism / normal energy metabolism / /

MedicalCondition

human pyruvate dehydrogenase deficiency / microcephaly / seizures / profound lactic acidosis / pyruvate dehydrogenase Ela deficiency / ao deficiency / systemic metabolic acidosis / typical infantile spasms / fully dominant disease / severe neonatal lactic acidosis / Pyruvate dehydrogenase complex deficiency / flexion contractures / Subacute necrotizing encephalomyelopathy / fatal lactic acidosis / complete deficiency / subacute necrotizing encephalopathy / X linked disorder / hydranencephaly / Neonatal pyruvate dehydrogenase deficiency / minimal systemic acidosis / chronic neurodegenerative condition / MS / severe disease / neurometabolic disease / X linked disease / severe lactic acidosis / blindness / PDH El deficiency / oa deficiency / secondary contractures / Tada K. Thiamine responsive pyruvate dehydrogenase deficiency / intercurrent illness / PDH El ot deficiency / mental retardation / Pyruvate dehydrogenase deficiency / Prenatal diagnosis PDH deficiency / disease / pes cavus / PDH deficiency / PDH Ela deficiency / hydronephrosis / early onset neurological disease / pyruvate dehydrogenase ElIa subunit deficiency / Complete PDH deficiency / X-linked pyruvate dehydrogenase Ela subunit deficiency / Leigh's syndrome / Leigh disease / Neurological disease / ventricular septal defect / primary lactic acidosis / subacute neurodegenerative disease / chronic neurological form / lactic acidosis / profound mental retardation / dehydrogenase deficiency / pyruvate carboxylase deficiency / deficiency / metabolic disease / Early onset mitochondrial disease / X linked diseases / Syndrome / cerebral lactic acidosis / disorders / /

Organization

University of Oxford / Molecular / Institute of Child Health / University of London / /

Person

Nada Al Murani / Acta Neuropathol / Harrison JR / Willard H. Isolated / Ann N Y Acad Sci / /

Position

Carpenter / Matthews PM / narrow head / /

Product

El component / severe metabolic presentation / enzyme / /

ProvinceOrState

Connecticut / /

Technology

Genomics / antibodies / ultrasound / Cloning / MRI / spectroscopy / PDH / /

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