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Tags: Juvenile/ep [Epidemiology]

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Natural history of nonketotic hyperglycinemia in 65 patients

BACKGROUND: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and…

Tags: 2004, Adolescent, Age of Onset, AIM, Anticonvulsants/tu [Therapeutic Use], Apnea/et [Etiology], Apnea/th [Therapy], Applegarth D, Artificial, Backlog, Child, Corpus Callosum/ab [Abnormalities], Disease Progression, Female, Glycine/bl [Blood], Glycine/cf [Cerebrospinal Fluid], Hamosh A, Health Surveys, Hoover-Fong JE, Humans, Hydrocephalus/ep [Epidemiology], Hydrocephalus/et [Etiology], Hyperglycinemia, IM, Infant, Journal Article, Juvenile/dt [Drug Therapy], Juvenile/ep [Epidemiology], Juvenile/et [Etiology], Male, Myoclonic Epilepsy, Neurology, Newborn, Nonketotic/co [Complications], Nonketotic/ep [Epidemiology], Nonketotic/me [Metabolism], Nonketotic/mo [Mortality], Nystagmus, Pathologic/ep [Epidemiology], Pathologic/et [Etiology], Pregnancy, Pregnancy Complications/ep [Epidemiology], Preschool, Psychomotor Disorders/ep [Epidemiology], Psychomotor Disorders/et [Etiology], Questionnaires, Registries, Respiration, Retrospective Studies, Seizures/dt [Drug Therapy], Seizures/ep [Epidemiology], Seizures/et [Etiology], Sex Factors, Shah S, Survival Analysis, Toone J, Van Hove JL

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