Literature DB >> 14044451

THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE.

J DANCIS, J HUTZLER, M LEVITZ.   

Abstract

Keywords:  CHROMATOGRAPHY; ISOLEUCINE; KETO ACIDS; LEUCINE; LEUKOCYTES; MAPLE SYRUP URINE DISEASE; METABOLISM; VALINE

Mesh：

Substances：

Year:  1963        PMID： 14044451

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  12 in total

1.  [ANOTHER HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].

Authors:  F LINNEWEH; M EHRLICH; E H GRAUL; H HUNDESHAGEN
Journal:  Klin Wochenschr       Date:  1963-10-01

2.  Abnormal amino acid metabolism and brain protein synthesis during neural development.

Authors:  J V Hughes; T C Johnson
Journal:  Neurochem Res       Date:  1978-08       Impact factor: 3.996

3.  Maple syrup urine disease variant: report on an infant.

Authors:  P Koepp; C Rybak; H W Rüdiger; U Wendel
Journal:  Z Kinderheilkd       Date:  1974-02-11

Review 4.  Down with plasma. Intracellular chemical pathology studied by analysis of cells of solid tissues, erythrocytes, and leukocytes.

Authors:  D N Baron
Journal:  Proc R Soc Med       Date:  1969-09

Review 5.  Molecular basis of hereditary disease.

Authors:  H Harris
Journal:  Br Med J       Date:  1968-04-20

6.  The absence of inactivation at two autosomal loci.

Authors:  B Sigman; S M Gartler
Journal:  Humangenetik       Date:  1966

Review 7.  [Problems of quantitative diagnosis of hereditary metabolic diseases].

Authors:  F Linneweh
Journal:  Klin Wochenschr       Date:  1965-10-15

8.  Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease.

Authors:  Y Shigematsu; K Kikuchi; T Momoi; M Sudo; Y Kikawa; K Nosaka; M Kuriyama; S Haruki; K Sanada; N Hamano
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Authors:  D T Chuang; L S Ku; D S Kerr; R P Cox
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

10.  Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.

Authors:  S D Skaper; D P Molden; J E Seegmiller
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890
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