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Erschienen in: Journal of Inherited Metabolic Disease 5/2013

01.09.2013 | Letter to the Editors

Important aspects in the molecular diagnosis of mucopolysaccharidoses

verfasst von: Ana Carolina Brusius-Facchin, Francyne Kubaski, Roberto Giugliani, Sandra Leistner-Segal

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2013

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Excerpt

Recently, Pollard et al (2012) reported the molecular characterization of 355 patients with mucopolysaccharidoses, in whom 104 novel mutations were found. We read this article with great interest and would like to share some insights and concerns regarding these results, which we think relevant as the authors propose that genetic diagnosis should be performed before or even without biochemical diagnosis. Enzyme diagnosis is presently considered the "gold standard" approach (Neufeld and Muenzer 2001), usually followed by genetic diagnosis mainly to help the understanding of the genotype-phenotype correlation, to detect carriers, to improve prenatal diagnosis and to confirm biochemical diagnosis in the few doubtful cases. …
Literatur
Zurück zum Zitat Pollard LM, Jones JR, Wood TC (2012) Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. J Inherit Metab Dis. doi:10.1007/s10545-012-9533-7 Pollard LM, Jones JR, Wood TC (2012) Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. J Inherit Metab Dis. doi:10.​1007/​s10545-012-9533-7
Zurück zum Zitat Neufeld EF, Muenzer J (2001) The Mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 1191–1211 Neufeld EF, Muenzer J (2001) The Mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 1191–1211
Metadaten
Titel
Important aspects in the molecular diagnosis of mucopolysaccharidoses
verfasst von
Ana Carolina Brusius-Facchin
Francyne Kubaski
Roberto Giugliani
Sandra Leistner-Segal
Publikationsdatum
01.09.2013
Verlag
Springer Netherlands
Erschienen in
Journal of Inherited Metabolic Disease / Ausgabe 5/2013
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-012-9557-z

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