Literature DB >> 475411

Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy.

L M Drummond.   

Abstract

The PKU sample, if taken after the 3rd day, is suitable for Duchenne muscular dystrophy screening using creatine phosphokinase (CPK) levels. 101 babies (53 girls and 48 boys) had CPK levels measured on filter paper blood specimens taken by heel prick on the 1st and 4th days of life. The method used was that described by Zellweger and Antonik (1975). The CPK levels were markedly raised on the 1st day of life but by the 4th they had reduced to within 3 times the upper limit of the normal range for adults. 10,000 boys were then screened for Duchenne muscular dystrophy using the PKU sample, and 2 cases were found.

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Year:  1979        PMID: 475411      PMCID: PMC1545573          DOI: 10.1136/adc.54.5.362

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  11 in total

1.  The detection of carriers of benign (Becker-type) X-linked muscular dystrophy.

Authors:  R Skinner; A E Emery; A J Anderson; C Foxall
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318

2.  Formal genetics of muscular dystrophy.

Authors:  N E MORTON; C S CHUNG
Journal:  Am J Hum Genet       Date:  1959-12       Impact factor: 11.025

3.  Duchenne muscular dystrophy: early diagnosis, and screening.

Authors: 
Journal:  Arch Dis Child       Date:  1976-12       Impact factor: 3.791

4.  Serum creatine phosphokinase in normal newborns.

Authors:  N Gilboa; J R Swanson
Journal:  Arch Dis Child       Date:  1976-04       Impact factor: 3.791

5.  [Diagnosis of preclinical Duchenne's muscular dystrophy in the newborn using the CK screening test].

Authors:  R Beckmann; G Scheuerbrandt; A Antonik
Journal:  Monatsschr Kinderheilkd       Date:  1976-09

6.  Screening for Duchenne muscular dystrophy.

Authors:  A D Roses; G A Nicholson; C R Roe
Journal:  Pediatrics       Date:  1977-08       Impact factor: 7.124

Review 7.  Screening for Duchenne muscular dystrophy.

Authors:  V Dubowitz
Journal:  Arch Dis Child       Date:  1976-04       Impact factor: 3.791

8.  Early diagnosis and treatment of rapidly developing Duchenne De Boulogne type myopathy (type DDB I).

Authors:  J Demos
Journal:  Am J Phys Med       Date:  1971-12

9.  Creatine phospholinase in normal neonates and young infants.

Authors:  J B Bodensteiner; H Zellweger
Journal:  J Lab Clin Med       Date:  1971-05

10.  Newborn screening for Duchenne muscular dystrophy.

Authors:  H Zellweger; A Antonik
Journal:  Pediatrics       Date:  1975-01       Impact factor: 7.124

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  12 in total

1.  Screening for Duchenne muscular dystrophy.

Authors:  R A Smith; M Rogers; D M Bradley; J R Sibert; P S Harper
Journal:  Arch Dis Child       Date:  1989-07       Impact factor: 3.791

2.  Early diagnosis and secondary prevention of Duchenne muscular dystrophy.

Authors:  R A Smith; J R Sibert; S J Wallace; P S Harper
Journal:  Arch Dis Child       Date:  1989-06       Impact factor: 3.791

Review 3.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Feasibility of neonatal screening for Duchenne muscular dystrophy.

Authors:  R Skinner; A E Emery; G Scheuerbrandt; J Syme
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

5.  The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.

Authors:  R J Lane; M Robinow; A D Roses
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

6.  Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands.

Authors:  A J van Essen; H F Busch; G J te Meerman; L P ten Kate
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

7.  Initial pulmonary respiration causes massive diaphragm damage and hyper-CKemia in Duchenne muscular dystrophy dog.

Authors:  Akinori Nakamura; Masanori Kobayashi; Mutsuki Kuraoka; Katsutoshi Yuasa; Naoko Yugeta; Takashi Okada; Shin'ichi Takeda
Journal:  Sci Rep       Date:  2013       Impact factor: 4.379

Review 8.  Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.

Authors:  Salvatore Crisafulli; Janet Sultana; Andrea Fontana; Francesco Salvo; Sonia Messina; Gianluca Trifirò
Journal:  Orphanet J Rare Dis       Date:  2020-06-05       Impact factor: 4.123

9.  Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

Authors:  Alissa Cyrus; Natalie Street; Sharon Quary; Julie Kable; Aileen Kenneson; Paul Fernhoff
Journal:  PLoS Curr       Date:  2012-05-02

10.  Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.

Authors:  Shuai Han; Hong Xu; Jinxian Zheng; Junhui Sun; Xue Feng; Yue Wang; Wen Ye; Qing Ke; Yanwei Ren; Shulie Yao; Songying Zhang; Jianfen Chen; Robert C Griggs; Zhengyan Zhao; Ming Qi; Michele A Gatheridge
Journal:  Biomed Res Int       Date:  2020-09-27       Impact factor: 3.411

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