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You searched for id:"uvapub:oai:dare.uva.nl:publications/081fcba0-7a94-4058-bd31-a44d381f3c27". One record found.

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1. Welsink-Karssies, M.M. Classical galactosemia: Elucidating the spectrum of clinical outcome.

Degree: Faculteit der Geneeskunde, 2021, NARCIS

Classical Galactosemia is an inborn error of metabolism, a disease in which galactose (milk sugar) is not processed correctly in the cells of the body. The enzyme galactose-1-phosphate uridylyltransferase (GALT) is an enzyme essential for one of the steps in the conversion of galactose into glucose, which is used by the body for energy. Galactosemia literally means galactose in the blood. In patients with Classical Galactosemia (CG), the enzyme GALT is not working properly as a result of inherited changes in the DNA. The accumulation of galactose in the blood leads to toxic products upstream of the GALT enzyme and a shortage of products downstream of the GALT enzyme. Both mechanism are presumed to contribute to the complications observed in patients such as motor developmental delay, speech developmental delay, a below average IQ, cognitive impairment, movement disorders, and in most female patients premature ovarian insufficiency (POI). The clinical outcome of patients is highly variable and ranges from severely affected to completely normal, which is poorly understood. The aim of this thesis is to elucidate the broad spectrum of clinical outcome of CG and to search for (prognostic) markers of clinical outcome. Part 1 of this thesis explores the clinical and biochemical outcome of patients and in Part 2 potential (bio)markers and their association with clinical outcome are investigated. To improve knowledge on disease and treatment we developed patient education materials for children and adolescents with inborn errors of metabolism and tested these materials in Part 3 . Advisors/Committee Members: Wijburg, F.A., Bosch, A.M..

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Welsink-Karssies, M. M. (2021). Classical galactosemia: Elucidating the spectrum of clinical outcome. (Doctoral Dissertation). NARCIS. Retrieved from https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; 081fcba0-7a94-4058-bd31-a44d381f3c27 ; 11245.1/081fcba0-7a94-4058-bd31-a44d381f3c27 ; urn:isbn:9789464230260 ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html

Chicago Manual of Style (16th Edition):

Welsink-Karssies, M M. “Classical galactosemia: Elucidating the spectrum of clinical outcome.” 2021. Doctoral Dissertation, NARCIS. Accessed January 16, 2021. https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; 081fcba0-7a94-4058-bd31-a44d381f3c27 ; 11245.1/081fcba0-7a94-4058-bd31-a44d381f3c27 ; urn:isbn:9789464230260 ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html.

MLA Handbook (7th Edition):

Welsink-Karssies, M M. “Classical galactosemia: Elucidating the spectrum of clinical outcome.” 2021. Web. 16 Jan 2021.

Vancouver:

Welsink-Karssies MM. Classical galactosemia: Elucidating the spectrum of clinical outcome. [Internet] [Doctoral dissertation]. NARCIS; 2021. [cited 2021 Jan 16]. Available from: https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; 081fcba0-7a94-4058-bd31-a44d381f3c27 ; 11245.1/081fcba0-7a94-4058-bd31-a44d381f3c27 ; urn:isbn:9789464230260 ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html.

Council of Science Editors:

Welsink-Karssies MM. Classical galactosemia: Elucidating the spectrum of clinical outcome. [Doctoral Dissertation]. NARCIS; 2021. Available from: https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; 081fcba0-7a94-4058-bd31-a44d381f3c27 ; 11245.1/081fcba0-7a94-4058-bd31-a44d381f3c27 ; urn:isbn:9789464230260 ; urn:nbn:nl:ui:29-081fcba0-7a94-4058-bd31-a44d381f3c27 ; https://dare.uva.nl/personal/pure/en/publications/classical-galactosemia(081fcba0-7a94-4058-bd31-a44d381f3c27).html

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