Literature DB >> 5041315

Massachusetts metabolic disorders screening program. I. Technics and results of urine screening.

H L Levy, P M Madigan, V E Shih.   

Abstract

Mesh：

Year:  1972        PMID： 5041315

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


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  13 in total

Review 1.  Neurology and the skin.

Authors:  O Hurko; T T Provost
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-04       Impact factor: 10.154

2.  A public health response to emerging technology: expansion of the Massachusetts newborn screening program.

Authors:  K Atkinson; B Zuckerman; J M Sharfstein; D Levin; R J Blatt; H K Koh
Journal:  Public Health Rep       Date:  2001 Mar-Apr       Impact factor: 2.792

3.  Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.

Authors:  Erik Fjellstedt; Lotta Harnevik; Jan-Olof Jeppsson; Hans-Göran Tiselius; Peter Söderkvist; Torsten Denneberg
Journal:  Urol Res       Date:  2003-10-25

4.  Screening for inherited metabolic disease in Wales using urine-impregnated filter paper.

Authors:  D M Bradley
Journal:  Arch Dis Child       Date:  1975-04       Impact factor: 3.791

5.  Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Authors:  R Wartenfeld; E Golomb; G Katz; S J Bale; B Goldman; M Pras; D L Kastner; E Pras
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

6.  Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil.

Authors:  R Giugliani; J C Dutra; M L Barth; C S Dutra-Filho; S L Goldenfum; M Wajner
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  Evidence suggesting that the minimal functional unit of a renal cystine transporter is a heterodimer and its implications in cystinuria.

Authors:  S S Tate
Journal:  Amino Acids       Date:  1996-06       Impact factor: 3.520

8.  Cystinuria: the South Indian experience.

Authors:  Y M Fazil Marickar
Journal:  Urol Res       Date:  2009-09-25

9.  Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.

Authors:  C Ficicioglu; R Mandell; V E Shih
Journal:  Mol Genet Metab       Date:  2009-06-25       Impact factor: 4.797

10.  Mutations in the SLC3A1 transporter gene in cystinuria.

Authors:  E Pras; N Raben; E Golomb; N Arber; I Aksentijevich; J M Schapiro; D Harel; G Katz; U Liberman; M Pras
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025
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