Annet M Bosch Selected Research

UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)

9/2021	Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
1/2018	Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
12/2007	Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.
5/2005	Identification of novel mutations in classical galactosemia.
5/2004	Living with classical galactosemia: health-related quality of life consequences.

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Annet M Bosch Research Topics

Disease

16	Phenylketonurias (Phenylketonuria) 01/2022 - 02/2011
13	Galactosemias (Galactosemia) 09/2021 - 05/2004
3	Cataract (Cataracts) 01/2021 - 08/2006
2	Congenital Hypothyroidism (Cretinism) 06/2021 - 09/2020
2	Brain Diseases (Brain Disorder) 01/2021 - 03/2014
2	Primary Ovarian Insufficiency 01/2020 - 12/2007
2	Movement Disorders (Movement Disorder) 01/2020 - 11/2014
2	Medium chain acyl CoA dehydrogenase deficiency 01/2019 - 05/2012
2	Hypoglycemia (Reactive Hypoglycemia) 01/2019 - 08/2012
2	Cognitive Dysfunction 01/2017 - 06/2011
2	Brown-Vialetto-Van Laere syndrome 01/2016 - 02/2011
1	Tyrosinemias (Tyrosinemia) 01/2022
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 10/2021
1	Disease Susceptibility (Diathesis) 01/2021
1	Hemorrhage 01/2021
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2019
1	VLCAD deficiency 01/2019
1	Muscular Diseases (Myopathy) 01/2019
1	Cardiomyopathies (Cardiomyopathy) 01/2019
1	Mucopolysaccharidosis I (Hurler Syndrome) 01/2019
1	Infertility (Sterility) 01/2018
1	Fatigue 01/2017
1	Eczema 01/2017
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2017
1	Nervous System Diseases (Neurological Disorders) 01/2016
1	Cranial Nerve Diseases (Cranial Nerve Disorders) 01/2016
1	Encephalitis (Encephalitis, Rasmussen) 01/2016
1	Ataxia (Dyssynergia) 01/2016
1	Cerebrotendinous Xanthomatosis 01/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2016
1	Hearing Loss (Hearing Impairment) 01/2016
1	Seizures (Absence Seizure) 03/2014
1	Infantile Hypophosphatasia 03/2014
1	Congenital Abnormalities (Deformity) 03/2014
1	Hypophosphatasia 03/2014
1	Epilepsy (Aura) 03/2014
1	Riboflavin Deficiency 10/2012
1	Down Syndrome (Down's Syndrome) 08/2012
1	Schizencephaly 08/2012
1	Ketosis 08/2012
1	Intellectual Disability (Idiocy) 08/2012
1	Failure to Thrive 08/2012
1	Autism Spectrum Disorder 08/2012
1	Drug Resistant Epilepsy 01/2012
1	Argininosuccinic Aciduria 01/2012
1	Hyperammonemia 01/2012
1	Deafness (Deaf Mutism) 02/2011
1	Progressive Bulbar Palsy (Fazio Londe Syndrome) 02/2011
1	Muscle Hypotonia (Hypotonia) 08/2006
1	Food Intolerance 08/2006
1	Jaundice (Icterus) 08/2006
1	Sepsis (Septicemia) 08/2006

Drug/Important Bio-Agent (IBA)

12	Galactose (Galactopyranose)FDA LinkGeneric 09/2021 - 05/2004
7	Phenylalanine (L-Phenylalanine)FDA Link 01/2022 - 02/2011
7	EnzymesIBA 12/2020 - 05/2012
5	UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA 09/2021 - 05/2004
5	sapropterin (tetrahydrobiopterin)FDA Link 01/2018 - 06/2013
3	Polysaccharides (Glycans)IBA 09/2021 - 01/2018
3	Biomarkers (Surrogate Marker)IBA 01/2020 - 01/2018
3	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2016 - 02/2011
2	Immunoglobulin G (IgG)IBA 09/2021 - 01/2020
2	Amino Acids FDA Link 01/2021 - 01/2019
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021 - 01/2013
2	galactose-1-phosphateIBA 12/2020 - 01/2020
2	Urea (Carbamide)FDA LinkGeneric 11/2019 - 01/2012
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2019 - 01/2019
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2019 - 05/2012
2	MicronutrientsIBA 01/2018 - 01/2017
2	Essential Fatty AcidsIBA 01/2018 - 01/2017
2	Proteins (Proteins, Gene)FDA Link 01/2017 - 01/2012
1	Tyrosine (L-Tyrosine)FDA Link 01/2022
1	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 10/2021
1	Thyroxine (Levothyroxine)FDA LinkGeneric 06/2021
1	Thyroxine-Binding GlobulinIBA 06/2021
1	GlobulinsIBA 06/2021
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 06/2021
1	Transaminases (Aminotransferases)IBA 01/2021
1	Thyroid HormonesIBA 09/2020
1	Triglycerides (Triacylglycerol)IBA 01/2019
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2019
1	LeptinIBA 01/2018
1	GalactokinaseIBA 01/2018
1	Immunoglobulin E (IgE)IBA 01/2017
1	Immunoglobulins (Immunoglobulin)IBA 01/2017
1	Prednisone (Sone)FDA LinkGeneric 01/2017
1	Bile Acids and Salts (Bile Acids)IBA 01/2016
1	Chenodeoxycholic Acid (Chenix)FDA Link 01/2016
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 03/2014
1	Pharmaceutical PreparationsIBA 06/2013
1	Arginine (L-Arginine)FDA Link 01/2012
1	Argininosuccinate LyaseIBA 01/2012

Therapy/Procedure

2	Therapeutics 03/2014 - 01/2012
1	Enzyme Replacement Therapy 01/2019
1	Hematopoietic Stem Cell Transplantation 01/2017
1	Medical Day Care (Partial Hospitalization) 03/2015
1	Activities of Daily Living (ADL) 11/2014
1	Ketogenic Diet 01/2012
1	Protein-Restricted Diet (Diet, Protein Restricted) 06/2011