1
40
1
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1212/01.wnl.0000144270.83080.29" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.wnl.0000144270.83080.29</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Natural history of nonketotic hyperglycinemia in 65 patients
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Pregnancy; Questionnaires; Disease Progression; Respiration; Survival Analysis; Sex Factors; Registries; adolescent; Preschool; infant; Newborn; AIM; IM; retrospective studies; Age of Onset; Health Surveys; Artificial; Seizures/et [Etiology]; Anticonvulsants/tu [Therapeutic Use]; Apnea/et [Etiology]; Apnea/th [Therapy]; Corpus Callosum/ab [Abnormalities]; Glycine/bl [Blood]; Glycine/cf [Cerebrospinal Fluid]; Hydrocephalus/ep [Epidemiology]; Hydrocephalus/et [Etiology]; Hyperglycinemia; Juvenile/dt [Drug Therapy]; Juvenile/ep [Epidemiology]; Juvenile/et [Etiology]; Myoclonic Epilepsy; Nonketotic/co [Complications]; Nonketotic/ep [Epidemiology]; Nonketotic/me [Metabolism]; Nonketotic/mo [Mortality]; Nystagmus; Pathologic/ep [Epidemiology]; Pathologic/et [Etiology]; Pregnancy Complications/ep [Epidemiology]; Psychomotor Disorders/ep [Epidemiology]; Psychomotor Disorders/et [Etiology]; Seizures/dt [Drug Therapy]; Seizures/ep [Epidemiology]
Creator
An entity primarily responsible for making the resource
Hoover-Fong JE; Shah S; Van Hove JL; Applegarth D; Toone J; Hamosh A
Description
An account of the resource
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 seizures, followed by severe psychomotor retardation in those who survive. METHODS: To determine the natural history of NKH, the authors mailed a 44-question survey to 170 households in the International NKH Family Network. RESULTS: Data for 65 patients (36 boys, 29 girls) were collected from 58 families. One-third of the subjects died; 8 girls died during the neonatal period, and 14 patients died thereafter (2 girls, 12 boys). Median age of death for boys was 2.6 years vs or =3 years, 10 were able to walk and say/sign words; all were boys. In six families with more than one affected child, disease course and mortality were similar within each family. CONCLUSIONS: This study reveals a striking and unexpected gender difference in mortality and developmental progress. Of the two-thirds of nonketotic hyperglycinemia patients surviving the newborn period, up to 20% (mostly boys) may learn to walk and communicate by saying or signing words.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/01.wnl.0000144270.83080.29" target="_blank" rel="noreferrer">10.1212/01.wnl.0000144270.83080.29</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
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