Literature DB >> 8803791

The incidence and characterization of phenylketonuric patients in Estonia.

K Ounap1, H Lilleväli, T Klaassen, A Metspalu, M Sitska.   

Abstract

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Year:  1996        PMID： 8803791     DOI： 10.1007/bf01799278

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


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  2 in total

1.  An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

Authors:  A G DiLella; J Marvit; K Brayton; S L Woo
Journal:  Nature       Date:  1987 May 28-Jun 3       Impact factor: 49.962

2.  Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

Authors:  R C Eisensmith; A A Goltsov; C O'Neill; L A Tyfield; E I Schwartz; A I Kuzmin; S S Baranovskaya; G L Tsukerman; E Treacy; C R Scriver
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  2 in total
  1 in total

1.  Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis.

Authors:  Hamid Reza Shoraka; Ali Akbar Haghdoost; Mohammad Reza Baneshi; Zohre Bagherinezhad; Farzaneh Zolala
Journal:  Clin Exp Pediatr       Date:  2020-02-06
  1 in total

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