Classical galactosemia: Cognitive, psychosocial and prognostic challenges

M.E. Hermans

Classical galactosemia: Cognitive, psychosocial and prognostic challenges

Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

Abstract

Classical galactosemia (CG) is an autosomal recessive inborn error of galactose metabolism caused by a severe deficiency of the enzyme galactose-1-phosphate-uridyltransferase (GALT). In affected newborns, ingestion of galactose from breast milk or infant formula causes life-threatening symptoms. An early diagnosis after newborn screening (NBS) or family screening and a

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Amsterdam
Supervisors/Advisors	Bosch, Annet, Supervisor Geurtsen, Gert, Co-supervisor
Award date	9 Apr 2024
Print ISBNs	9789464734164
Publication status	Published - 2024

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PY - 2024

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AB - Classical galactosemia (CG) is an autosomal recessive inborn error of galactose metabolism caused by a severe deficiency of the enzyme galactose-1-phosphate-uridyltransferase (GALT). In affected newborns, ingestion of galactose from breast milk or infant formula causes life-threatening symptoms. An early diagnosis after newborn screening (NBS) or family screening and a

UR - https://pure.uva.nl/ws/files/163700264/Licentieovereenkomst_medeondertekend_.pdf

M3 - Phd-Thesis - Research and graduation internal

SN - 9789464734164

ER -

Classical galactosemia: Cognitive, psychosocial and prognostic challenges

Abstract

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