Literature DB >> 10830032

Saudi aminoacidemias: a six-year study.

S B Subramanyam1.   

Abstract

More than 2,500 samples were analyzed and we found 135 abnormal amino acid patients in different categories. The major four diseases are: Maple syrup urine disease (MSUD), Phenylketonuria (PKU) both classical PKU due to L-phenylalanine hydroxylase deficiency and 6-pyruvoyl tetrahydropterin synthase (6PTPS) deficiency, homocystinuria and Tyrosinemia.

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Year:  1996        PMID： 10830032     DOI： 10.1007/bf02730809

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  7 in total

1.  Tetrahydrobiopterin deficiency and an international database of patients.

Authors:  N Blau; J L Dhondt
Journal:  Adv Exp Med Biol       Date:  1993       Impact factor: 2.622

Review 2.  Maple syrup urine disease 1954 to 1993.

Authors:  F Peinemann; D J Danner
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  Free amino acids in human fetal plasma.

Authors:  P Kamoun; V Droin; F Forestier; F Daffos
Journal:  Clin Chim Acta       Date:  1985-08-30       Impact factor: 3.786

4.  The diagnosis and management of MSUD in Saudi Arabia by using two different methods.

Authors:  S B Subramanyam; S M Qadri; M B Dhalla; P T Ozand
Journal:  Indian J Pediatr       Date:  1990 Sep-Oct       Impact factor: 1.967

5.  Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase.

Authors:  A al Aqeel; P T Ozand; G Gascon; M Nester; M al Nasser; J Brismar; N Blau; H Hughes; S B Subramanyan; C T Reynolds
Journal:  Neurology       Date:  1991-05       Impact factor: 9.910

6.  Inborn errors of amino acid metabolism in north India.

Authors:  M Kaur; G P Das; I C Verma
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.

Authors:  G C Yadav; P C Reavey
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
  7 in total
  1 in total

Review 1.  Ethics of genetic counseling--basic concepts and relevance to Islamic communities.

Authors:  Mohsen A F El-Hazmi
Journal:  Ann Saudi Med       Date:  2004 Mar-Apr       Impact factor: 1.526
  1 in total

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