Literature DB >> 6775144

Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria.

P Purkiss, R A Chalmers, O Borud.   

Abstract

Urinary amino acids have been determined in six patients with propionic acidaemia, one of whom also showed 3-methylcrotonylglycinuria. Two patients, including the subject with 3-methylcrotonylglycinuria, showed a gross aminoaciduria with features of both cystinuria and iminoglycinuria. We suggest a defect in certain amino acid transport systems in some patients with these disorders.

Entities:  

Mesh：

Substances：

Year:  1980        PMID： 6775144     DOI： 10.1007/bf02312533

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

1.  Age related reference values for urinary free amino acids: a simple method of evaluation.

Authors:  P Parvy; Y Huang; P Kamoun
Journal:  J Clin Chem Clin Biochem       Date:  1979-04

Review 2.  Rapid screening methods for the detection of inherited and acquired aminoacidopathies.

Authors:  A Saifer
Journal:  Adv Clin Chem       Date:  1971       Impact factor: 5.394

3.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

4.  The excretion of amino acids by cystinuric patients and their relatives.

Authors:  J C Crawhall; P Purkiss; R W Watts; E P Young
Journal:  Ann Hum Genet       Date:  1969-10       Impact factor: 1.670

5.  Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts.

Authors:  K Bartlett; D Gompertz
Journal:  Lancet       Date:  1976-10-09       Impact factor: 79.321

6.  The variability of metabolite excretion in propionicacidaemia.

Authors:  M Duran; D Gompertz; L Bruinvis; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-01-02       Impact factor: 3.786
  6 in total
  1 in total

1.  Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria.

Authors:  J Oizumi; K N Shaw; T A Giudici; M Carter; G N Donnell; W G Ng
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.