Literature DB >> 2246857

Inherited metabolic disorders in Turkey.

I Ozalp1, T Coskun, S Tokol, G Demircin, E Mönch.   

Abstract

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Year:  1990        PMID： 2246857     DOI： 10.1007/bf01799576

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


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  12 in total

1.  Consanguinity in Turkey in 1988.

Authors:  E Tuncbilek; M Ulusoy
Journal:  Nufusbil Derg       Date:  1989

2.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

3.  Endemic Urinary Lithiasis in Turkish Children: A Clinical Study of 119 Cases.

Authors:  H B Eckstein
Journal:  Arch Dis Child       Date:  1961-04       Impact factor: 3.791

4.  Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.

Authors: 
Journal:  Humangenetik       Date:  1975-12-23

5.  Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.

Authors:  P T Moore; M C Martin; V P Coffey
Journal:  J Ment Defic Res       Date:  1972-06

Review 6.  Understanding inherited metabolic disease.

Authors:  W L Nyhan
Journal:  Clin Symp       Date:  1980

7.  Screening for organic acidurias and amino acidopathies in newborns and children.

Authors:  R A Chalmers; P Purkiss; R W Watts; A M Lawson
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

8.  Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain.

Authors:  T L Perry; N Urquhart; J MacLean; M E Evans; S Hansen; G F Davidson; D A Applegarth; P J MacLeod; J E Lock
Journal:  N Engl J Med       Date:  1975-06-12       Impact factor: 91.245

9.  Screening for metabolic disease in a metropolitan hospital.

Authors:  I Krieger; M Nigro; Q Taqi
Journal:  Am J Dis Child       Date:  1982-02

Review 10.  Inborn errors of metabolism: the clinical diagnosis in early infancy.

Authors:  B K Burton
Journal:  Pediatrics       Date:  1987-03       Impact factor: 7.124
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  15 in total

1.  Incidence of phenylketonuria in Iran estimated from consanguineous marriages.

Authors:  J Koochmeshgi; A Bagheri; S M Hosseini-Mazinani
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

2.  Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia.

Authors:  N Gungor; A Tokath; T Coskun; M Ozguc; I Ozalp
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

3.  Influences of ethnicity on perinatal and child mortality in the Netherlands.

Authors:  T W Schulpen; J E van Steenbergen; H F van Driel
Journal:  Arch Dis Child       Date:  2001-03       Impact factor: 3.791

4.  Phenylketonuria in Turkey, Ireland and west Scotland.

Authors:  L I Woolf
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Multimodal treatments of cystine stones: an observational, retrospective single-center analysis of 14 cases.

Authors:  Myungsun Shim; Hyung Keun Park
Journal:  Korean J Urol       Date:  2014-08-08

6.  Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Authors:  F Güneral; I Ozalp; H Tatlidil
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

Authors:  N M Ghiasvand; A Aledavood; R Ghiasvand; F Seyedin Borojeny; A R Aledavood; S Seyed; W Miner; G R Saeb Taheri
Journal:  J Inherit Metab Dis       Date:  2009-09-19       Impact factor: 4.982

8.  Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.

Authors:  Nicola Longo; Cary O Harding; Barbara K Burton; Dorothy K Grange; Jerry Vockley; Melissa Wasserstein; Gregory M Rice; Alejandro Dorenbaum; Jutta K Neuenburg; Donald G Musson; Zhonghua Gu; Saba Sile
Journal:  Lancet       Date:  2014-04-14       Impact factor: 79.321

9.  Mutation analysis in Turkish phenylketonuria patients.

Authors:  M Ozgüç; I Ozalp; T Coşkun; E Yilmaz; H Erdem; S Ayter
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

10.  Maple syrup urine disease: mutation analysis in Turkish patients.

Authors:  A Dursun; M Henneke; K Ozgül; J Gartner; T Coşkun; A Tokatli; H S Kalkanoğlu; M Demirkol; U Wendel; I Ozalp
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982
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