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NA13818 DNA from LCL

Description:

OXALOSIS TYPES I OR II, GLYCOLIC OR GLYCERIC ACIDURIA - 259900 OR 260000

Affected:

Yes

Sex:

Male

Age:

10 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Other
Family Member 1
Relation to Proband proband
Confirmation Biochemical characterization - other
Species Homo sapiens
Common Name Human
Remarks Japanese/Caucasian; urine metabolic screening by GC/MS showed elevated lactic & oxalic acid, presence of glycolic acid, & absence of glyceric acid; pt received liver & kidney transplant at age 1 yr; parents are GM13780 & GM13787

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Japanese/Caucasian; urine metabolic screening by GC/MS showed elevated lactic & oxalic acid, presence of glycolic acid, & absence of glyceric acid; pt received liver & kidney transplant at age 1 yr; parents are GM13780 & GM13787

Publications

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Bunchman TE, Majors H, Majors G, Gardner JJ, DeVee J, Dennerll EM, Hesford JL, Mitchell CL, Punch JD, The infant with primary hyperoxaluria and oxalosis: from diagnosis to multiorgan transplantation. Adv Ren Replace Ther3:315-25 1996
PubMed ID: 8914696

External Links

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dbSNP dbSNP ID: 11895
NCBI GTR 259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1
260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2
OMIM 259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1
260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2
Omim Description GLYCOLICACIDURIA
  HEPATIC AGT DEFICIENCYALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT, INCLUDED
  HYPEROXALURIA I
  OXALOSIS I
  PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY
  SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY
  D-GLYCERATE DEHYDROGENASE DEFICIENCY
  GLYCERICACIDURIA
  HYPEROXALURIA II
  OXALOSIS II
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
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