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40
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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/10.1016/j.ymgme.2007.09.011" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.ymgme.2007.09.011</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
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
Publisher
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Molecular Genetics And Metabolism
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Middle Aged; Mutation; Netherlands; Phenotype; adolescent; Preschool; infant; Models; Q3 Literature Search; Age of Onset; DNA Mutational Analysis; Acetyltransferases/chemistry/deficiency/genetics; DNA/genetics; Genotype; Missense; Molecular; Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology
Creator
An entity primarily responsible for making the resource
Ruijter GJ; Valstar MJ; van de Kamp JM; van der Helm RM; Durand S; van Diggelen OP; Wevers RA; Poorthuis BJ; Pshezhetsky AV; Wijburg FA
Description
An account of the resource
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene. Psychomotor development was reported to be normal in all patients during the first year of life. First clinical signs were usually noted between 1 and 6 years (mean 3.5 years), and consisted of delayed psychomotor development and behavioral problems. Other symptoms included sleeping and hearing problems, recurrent infections, diarrhoea and epilepsy. Two sisters had attenuated disease and did not have symptoms until the third decade. Mean age of death was 34 years (range 25-48). Molecular analysis revealed mutations in both alleles for all patients except one. Altogether 14 different mutations were found: two splice site mutations, one frame shift mutation due to an insertion, three nonsense mutations and eight missense mutations. Two mutations, p.R344C and p.S518F, were frequent among probands of Dutch origin representing 22.0% and 29.3%, respectively, of the mutant alleles. This study demonstrates that MPS IIIC has a milder course than previously reported and that both severity and clinical course are highly variable even between sibs, complicating prediction of the clinical phenotype for individual patients. A clear phenotype-genotype correlation could not be established, except that the mutations p.G262R and p.S539C were only found in two sisters with late-onset disease and presumably convey a mild phenotype.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.ymgme.2007.09.011" target="_blank" rel="noreferrer">10.1016/j.ymgme.2007.09.011</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
2008
Acetyltransferases/chemistry/deficiency/genetics
Adolescent
Adult
Age of Onset
Backlog
Child
DNA Mutational Analysis
DNA/genetics
Durand S
Female
Genotype
Humans
Infant
Journal Article
Male
Middle Aged
Missense
Models
Molecular
Molecular Genetics and Metabolism
Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology
Mutation
Netherlands
Phenotype
Poorthuis BJ
Preschool
Pshezhetsky AV
Q3 Scoping Review Results
Ruijter GJ
Valstar MJ
van de Kamp JM
van der Helm RM
van Diggelen OP
Wevers RA
Wijburg FA
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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/10.1093/brain/awh259" target="_blank" rel="noreferrer">http://doi.org/10.1093/brain/awh259</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
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Mitochondrial disorders
Publisher
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Brain
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; Humans; Adult; Mutation; DNA; Mitochondrial/genetics; DNA/genetics; Electron Transport/genetics; Gene Rearrangement/genetics; Mitochondrial Diseases/genetics/therapy; Oxidative Phosphorylation; Point Mutation/genetics; Proteins/genetics
Creator
An entity primarily responsible for making the resource
Zeviani M; Di Donato S
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1093/brain/awh259" target="_blank" rel="noreferrer">10.1093/brain/awh259</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
Description
An account of the resource
In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the clinical syndromes associated with abnormalities of the common final pathway of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Faulty oxidative phosphorylation may be due to overall dysfunction of the respiratory chain, a heteromultimeric structure embedded in the inner mitochondrial membrane, or can be associated with single or multiple defects of the five complexes forming the respiratory chain itself. From the genetic standpoint, the respiratory chain is a unique structure of the inner mitochondrial membrane formed by means of the complementation of two separate genetic systems: the nuclear genome and the mitochondrial genome. The nuclear genome encodes the large majority of the protein subunits of the respiratory complexes and most of the mitochondrial DNA (mtDNA) replication and expression systems, whereas the mitochondrial genome encodes only 13 respiratory complex subunits, and some RNA components of the mitochondrial translational apparatus. Accordingly, mitochondrial disorders due to defects in OXPHOS include both mendelian-inherited and cytoplasmic-inherited diseases. This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS.
2004
Adult
Backlog
Brain
Child
Di Donato S
DNA
DNA/genetics
Electron Transport/genetics
Gene Rearrangement/genetics
Humans
Journal Article
Mitochondrial Diseases/genetics/therapy
Mitochondrial/genetics
Mutation
Oxidative Phosphorylation
Point Mutation/genetics
Proteins/genetics
Zeviani M