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Cribado neonatal para la galactosemia

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Referencias

References to studies excluded from this review

Ir a:

Crabbe 1985 {published data only}

Crabbe MJ, Freeman G, Halder AB, Bron AJ. The inhibition of bovine lens aldose reductase by Clinoril, its absorption into the human red cell and its effect on human red cell aldose reductase activity. Ophthalmic Research 1985;17(2):85‐9. CENTRAL

Knerr 2014 {published data only}

Knerr I, Coss KP, Kratzsch J, Crushell E, Clark A, Doran PP, et al. Effects of temporary low‐dose galactose supplements in children of over 5 years with Classical Galactosaemia. Journal of Inherited Metabolic Disease 2014;37 Suppl 1:S101. CENTRAL

Manis 1997 {published data only}

Manis FR, Cohn LB, McBride‐Chang C, Wolff JA, Kaufman FR. A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine. Journal of Inherited Metabolic Disease 1979;20(4):549‐55. CENTRAL

Panis 2006 {published data only}

Panis B, Vermeer C, van Kroonenburgh MJ, Nieman FH, Menheere PP, Spaapen LJ, et al. Effect of calcium, vitamins K1 and D3 on bone in galactosemia. Bone 2006;39(5):1123‐9. CENTRAL

Schon 1976 {published data only}

Schon R. Preliminary results with the rapid fluorescence test (Weidemann) as mass screening procedure for galactosaemia in newborn infants (author transl). Wiener Klinische Wochenschrift 1976;88(8):274‐7. CENTRAL

Additional references

Ir a:

Botlin 2005

Botkin JR. Research for newborn screening: developing a national framework. Pediatrics 2005;116(4):862‐71.

Choi 2014

Choi R, Jo K, Ko D, Lee D, Song J, Jin D, et al. Novel GALT variations and mutation spectrum in the Korean population with decreased galactose‐1‐phosphate uridyltransferase activity. BMC Medical Genetics 2014;15(94):2‐8. [DOI: 10.1007/s10545‐012‐9477‐y]

Fridovich‐Keil 2008

Fridovich‐Keil JL, Walter JH. Chapter 72: Galactosemia. The Online Metabolic & Molecular Bases of Inherited Disease. ommbid.mhmedical.com/content.aspx?bookid=971&sectionid=62672411 (accessed prior to 06 March 2017):1‐20.

Handerson 2002

Henderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosaemia in patients from the Cape Town region of South Africa. BMC Pediatrics 2002;2(7):1471‐2431. [DOI: 10.1136/bcr.01.2011.3769]

Higgins 2003

Higgins JPT, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta‐analyses. BMJ 2003;327(7414):557‐60.

Higgins 2011a

Higgins JPT, Deeks JJ, editor(s). Chapter 7: Selecting studies and collecting data. In: Higgins JPT, Green S, editor(s). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 (updated March 2011). The Cochrane Collaboration, 2011. Available from handbook.cochrane.org.

Higgins 2011b

Higgins JPT, Altman DG, editor(s). Chapter 8: Assessing risk of bias in included studies. In: Higgins JPT, Green S, editor(s). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 (updated March 2011). The Cochrane Collaboration, 2011. Available from handbook.cochrane.org.

Honeyman 1993

Honeyman MM, Green A, Holton JB, Leonard JV. Galactosaemia: results of the British Paediatric Surveillance Unit study, 1988‐90. Archives of Disease in Childhood 1993;69:339‐41.

Levy 1978

Levy H, Hammersen G. Newborn screening for galactosemia and other galactose metabolic defects. Journal of Pediatrics 1978;92:871‐7.

Morel‐Garcia 2014

Morell‐Garcia D, Bauça J, Barceló A, Perez‐Esteban G, Vila M. Usefulness of Benedict's test for the screening of galactosaemia. Clinical Biochemistry 2014;47(9):857‐9.

Murphy 1999

Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E, et a, Genetic basis of transferase‐deficient galactosaemia in Ireland and the population history of the Irish Travellers. European Journal of Human Genetics 1999;7(5):549‐54.

Ohlsson 2011

Ohlsson A, Guthenberg C, Dobeln U. Galactosemia screening with low false‐positive recall rate: the Swedish experience. JIMD Reports 2011;59:114‐7.

Padilla 2008

Padilla C, Lam S. Issues on universal screening for galactosaemia. Annals of the Academy of Medicine, Singapore 2008;37(12):39‐41.

Pamela 2007

Pamela A. Newborn screening: current status. Health Affairs 2007;26(2):559‐66.

Pyhtila 2015

Pyhtila B, Shaw K, Neumann S, Fridovich‐Keil J. Newborn screening for galactosaemia in the United States: looking back, looking around, and looking ahead. JIMD Reports 2015;15:79‐93.

Review Manager 2014 [Computer program]

The Nordic Cochrane Centre, The Cochrane Collaboration. Review Manager (RevMan). Version 5.3. Copenhagen: The Nordic Cochrane Centre, The Cochrane Collaboration, 2014.

Squires 1997

Squires J, Bricker D, Potter L. Revision of a parent‐completed development screening tool: Ages and Stages Questionnaires. Journal of Pediatric Psychology 1997;22(3):313‐28.

Varela Lema 2014

Varela‐Lema L, Paz‐Valiñas L, Atienza Merino G. Neonatal screening for classic galactosemia. systematic review [Cribado neonatal de la galactosemia clásica. revisión sistemática]. Red Española de Agencias de Evaluación de Tecnologías y Prestaciones del SNS. Agenciade Evaluación de Tecnologías Sanitarias de Galicia2014.

Ware 1992

Ware JE, Sherbourne CD. The MOS 36‐item Short‐Form Health Survey (SF‐36): I. conceptual framework and item selection. Medical Care 1992;30(6):473–83.

Characteristics of studies

Characteristics of excluded studies [ordered by study ID]

Study

Reason for exclusion

Crabbe 1985

A study of treatment for cataracts in diabetes and galactosaemia; not a newborn screening study.

Knerr 2014

Study of the effects of temporary low‐dose galactose supplements in children of over 5 years with classical galactosaemia; not a newborn screening study.

Manis 1997

A study of treatment with oral uridine and cognitive functioning in people with classical galactosaemia; not a newborn screening study.

Panis 2006

A study of the effect of calcium, vitamins K1 and D3 on bone in galactosaemia; not a newborn screening study.

Schon 1976

A study of rapid fluorescence test (Weidemann) as mass screening procedure for galactosaemia in newborn infants in regard to sensitivity and specificity to a screening test; not relevant to our objectives.

Study flow diagram.
Figuras y tablas -
Figure 1

Study flow diagram.

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