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rdf:type |
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lifeskim:mentions |
|
|
pubmed:issue |
4
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pubmed:dateCreated |
1997-4-25
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pubmed:abstractText |
To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1098-4275
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|
pubmed:author |
pubmed-author:AksuFF,
pubmed-author:BakkerenJ AJA,
pubmed-author:BarronT FTF,
pubmed-author:BeauvaisPP,
pubmed-author:BluestoneDD,
pubmed-author:BrouwerO FOF,
pubmed-author:ChristensenEE,
pubmed-author:ClarkeM AMA,
pubmed-author:FinkelsteinJJ,
pubmed-author:FowlerBB,
pubmed-author:GabreelsF JFJ,
pubmed-author:GibsonK MKM,
pubmed-author:HammersenGG,
pubmed-author:IafollaA KAK,
pubmed-author:JakobsCC,
pubmed-author:KoboriJJ,
pubmed-author:LehnertWW,
pubmed-author:MaternDD,
pubmed-author:MoosaAA,
pubmed-author:RaabKK,
pubmed-author:RabierDD,
pubmed-author:RossierEE,
pubmed-author:SantosCC,
pubmed-author:VollmerBB,
pubmed-author:WeberH PHP
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pubmed:issnType |
Electronic
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pubmed:volume |
99
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
567-74
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:9093300-Adolescent,
pubmed-meshheading:9093300-Adult,
pubmed-meshheading:9093300-Aldehyde Oxidoreductases,
pubmed-meshheading:9093300-Child,
pubmed-meshheading:9093300-Child, Preschool,
pubmed-meshheading:9093300-Developmental Disabilities,
pubmed-meshheading:9093300-Diagnosis, Differential,
pubmed-meshheading:9093300-Enzyme Inhibitors,
pubmed-meshheading:9093300-Female,
pubmed-meshheading:9093300-Humans,
pubmed-meshheading:9093300-Infant,
pubmed-meshheading:9093300-Intellectual Disability,
pubmed-meshheading:9093300-Language Development Disorders,
pubmed-meshheading:9093300-Male,
pubmed-meshheading:9093300-Metabolism, Inborn Errors,
pubmed-meshheading:9093300-Motor Skills,
pubmed-meshheading:9093300-Sodium Oxybate,
pubmed-meshheading:9093300-Succinate-Semialdehyde Dehydrogenase,
pubmed-meshheading:9093300-Vigabatrin,
pubmed-meshheading:9093300-gamma-Aminobutyric Acid
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pubmed:year |
1997
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pubmed:articleTitle |
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
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pubmed:affiliation |
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX 75226, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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