1
40
3
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Text
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URL Address
<a href="http://doi.org/10.1016/j.braindev.2005.06.010" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.braindev.2005.06.010</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
Glutaric aciduria types I and II
Publisher
An entity responsible for making the resource available
Brain & Development
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Humans; Glutarates/urine; Disease Specific; Genes; Carnitine/deficiency; Deficiency Diseases/diagnosis/genetics; Glutaryl-CoA Dehydrogenase/deficiency/genetics; Recessive
Creator
An entity primarily responsible for making the resource
Gordon N
Description
An account of the resource
Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is discussed, especially those resulting from lesions in the basal ganglia, and the encephalopathic episodes which are often precipitated by infections. The variability of the clinical presentation is stressed. The most serious complications are collections of fluid and blood in the middle fossae, the bleeding resulting from rupture of bridging veins. The prognosis does not seem to be related to the extent of the enzyme deficiency. The diagnosis is confirmed by identifying the abnormal acids in the urine and the deficiency of the enzyme in cultured fibroblasts. The differential diagnosis is reviewed: from other biochemical disorders and from other cerebral lesions. Treatment is by special diet and carnitine supplementation. The dystonia can prove difficult to treat, and surgery may be needed to remove the collections of fluid and blood. Glutaric aciduria type II is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase. The symptoms can be mild or severe. The former may only occur in times of stress, and the latter include congenital anomalies, especially of the kidneys and heart. The pathology of these are discussed. The demonstration of organic acids in the urine and the results of muscle and liver biopsies confirm the diagnosis, and treatment with a special diet and supplementation with carnitine and riboflavine is effective.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.braindev.2005.06.010" target="_blank" rel="noreferrer">10.1016/j.braindev.2005.06.010</a>
Rights
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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
2006
Backlog
Brain & Development
Carnitine/deficiency
Deficiency Diseases/diagnosis/genetics
Disease Specific
Genes
Glutarates/urine
Glutaryl-CoA Dehydrogenase/deficiency/genetics
Gordon N
Humans
Journal Article
Recessive
-
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/10.1086/378781" target="_blank" rel="noreferrer">http://doi.org/10.1086/378781</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
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
Publisher
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American Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Female; Humans; Male; Mutation; P.H.S.; Research Support; U.S. Gov't; Syndrome; infant; Models; Pedigree; Membrane Proteins/genetics; Base Sequence; Amino Acid Sequence; Exons; Genes; Recessive; Missense; Molecular; Chromosome Mapping; Fibroma/genetics; Genetic Markers; Focal/genetics; Glomerulosclerosis; Protein Conformation; Protein Structure; Secondary
Creator
An entity primarily responsible for making the resource
Dowling O; Difeo A; Ramirez MC; Tukel T; Narla G; Bonafe L; Kayserili H; Yuksel-Apak M; Paller AS; Norton K; Teebi AS; Grum-Tokars V; Martin GS; Davis GE; Glucksman MJ; Martignetti JA
Description
An account of the resource
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive syndromes of unknown etiology characterized by multiple, recurring subcutaneous tumors, gingival hypertrophy, joint contractures, osteolysis, and osteoporosis. Both are believed to be allelic disorders; ISH is distinguished from JHF by its more severe phenotype, which includes hyaline deposits in multiple organs, recurrent infections, and death within the first 2 years of life. Using the previously reported chromosome 4q21 JHF disease locus as a guide for candidate-gene identification, we identified and characterized JHF and ISH disease-causing mutations in the capillary morphogenesis factor-2 gene (CMG2). Although CMG2 encodes a protein upregulated in endothelial cells during capillary formation and was recently shown to function as an anthrax-toxin receptor, its physiologic role is unclear. Two ISH family-specific truncating mutations, E220X and the 1-bp insertion P357insC that results in translation of an out-of-frame stop codon, were generated by site-directed mutagenesis and were shown to delete the CMG-2 transmembrane and/or cytosolic domains, respectively. An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein. The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1086/378781" target="_blank" rel="noreferrer">10.1086/378781</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
2003
American Journal Of Human Genetics
Amino Acid Sequence
Backlog
Base Sequence
Bonafe L
Child
Chromosome Mapping
Davis GE
Difeo A
Dowling O
Exons
Female
Fibroma/genetics
Focal/genetics
Genes
Genetic Markers
Glomerulosclerosis
Glucksman MJ
Grum-Tokars V
Humans
Infant
Journal Article
Kayserili H
Male
Martignetti JA
Martin GS
Membrane Proteins/genetics
Missense
Models
Molecular
Mutation
Narla G
Norton K
P.H.S.
Paller AS
Pedigree
Protein Conformation
Protein Structure
Ramirez MC
Recessive
Research Support
Secondary
Syndrome
Teebi AS
Tukel T
U.S. Gov't
Yuksel-Apak M
-
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/10.3109/15513818609025925" target="_blank" rel="noreferrer">http://doi.org/10.3109/15513818609025925</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
Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis
Publisher
An entity responsible for making the resource available
Pediatric Pathology / Affiliated With The International Paediatric Pathology Association
Date
A point or period of time associated with an event in the lifecycle of the resource
1986
Subject
The topic of the resource
Chromosome Disorders; Female; Humans; Syndrome; infant; Skin/pathology; Genes; Recessive; Fibromatosis; Hyalin/metabolism; Chromosome Aberrations/genetics/pathology; Contracture/genetics/pathology; Gastrointestinal Diseases/pathology; Gingival/genetics/pathology; Intestinal Mucosa/pathology; Skin Diseases/pathology
Creator
An entity primarily responsible for making the resource
Landing BH; Nadorra R
Description
An account of the resource
Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.
1986
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.3109/15513818609025925" target="_blank" rel="noreferrer">10.3109/15513818609025925</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
1986
Backlog
Chromosome Aberrations/genetics/pathology
Chromosome Disorders
Contracture/genetics/pathology
Female
Fibromatosis
Gastrointestinal Diseases/pathology
Genes
Gingival/genetics/pathology
Humans
Hyalin/metabolism
Infant
Intestinal Mucosa/pathology
Journal Article
Landing BH
Nadorra R
Pediatric Pathology / Affiliated With The International Paediatric Pathology Association
Recessive
Skin Diseases/pathology
Skin/pathology
Syndrome