Jaak Jaeken Selected Research

Muscle Hypotonia (Hypotonia)

2/2022	PMM2-CDG and nephrotic syndrome: A case report.
1/2016	Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
11/2012	Two novel deletions in hypotonia-cystinuria syndrome.
10/2012	DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
7/2006	PREPL: a putative novel oligopeptidase propelled into the limelight.
1/2006	Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

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Jaak Jaeken Research Topics

Disease

32	Congenital Disorders of Glycosylation 02/2022 - 11/2002
18	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 08/2021 - 05/2003
11	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 12/2002
6	Muscle Hypotonia (Hypotonia) 02/2022 - 01/2006
6	Metabolic Diseases (Metabolic Disease) 01/2021 - 02/2012
5	Galactosemias (Galactosemia) 01/2017 - 12/2005
4	Infections 09/2021 - 10/2013
4	Seizures (Absence Seizure) 01/2016 - 05/2007
3	Epilepsy (Aura) 02/2022 - 12/2002
3	Cerebellar Diseases (Cerebellar Syndrome) 08/2021 - 10/2015
2	Ataxia (Dyssynergia) 08/2021 - 10/2015
2	Atrophy 08/2021 - 10/2015
2	Glycogen Storage Disease XIV 01/2021 - 12/2016
2	Hemorrhage 05/2019 - 05/2003
2	Congenital disorder of glycosylation type II 12/2018 - 12/2005
2	Hypercholesterolemia 01/2018 - 02/2016
2	Tyrosinemias (Tyrosinemia) 01/2013 - 12/2009
2	Hyperphagia (Overeating) 11/2012 - 01/2006
2	Microcephaly 10/2012 - 05/2007
2	Pseudohypoparathyroidism 12/2008 - 12/2008
2	Pseudopseudohypoparathyroidism 12/2008 - 12/2008
2	Failure to Thrive 07/2006 - 01/2006
2	Hypotonia-Cystinuria Syndrome 07/2006 - 01/2006
1	Nephrotic Syndrome (Syndrome, Nephrotic) 02/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2021
1	NGLY1 deficiency 03/2021
1	Hypersensitivity (Allergy) 07/2020
1	Food Hypersensitivity (Food Allergy) 07/2020
1	Autoimmune Diseases (Autoimmune Disease) 07/2020
1	Necrosis 01/2020
1	Hyperinsulinism (Hyperinsulinemia) 01/2020
1	Hypoglycemia (Reactive Hypoglycemia) 01/2020
1	Reinfection 12/2019
1	Neurodevelopmental Disorders 05/2019
1	Asthenia 01/2019
1	Rheumatoid Arthritis 01/2019
1	Disease Progression 01/2019
1	Sensorineural Hearing Loss 01/2017
1	Glycogen Storage Disease (Glycogenosis) 12/2016
1	Liver Failure 02/2016
1	Hypertrichosis 01/2016
1	Glaucoma 01/2016
1	Inguinal Hernia (Direct Inguinal Hernia) 01/2016
1	Coloboma (Colobomas) 01/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Alcoholism (Alcohol Abuse) 01/2016
1	Infantile Spasms (West Syndrome) 01/2016
1	Developmental Bone Diseases (Bone Dysplasia) 06/2015

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 09/2021 - 07/2006
16	Congenital disorder of glycosylation type 1AIBA 02/2022 - 04/2011
11	LipidsIBA 09/2021 - 10/2012
11	Glycoproteins (Glycoprotein)IBA 04/2021 - 11/2002
11	Polysaccharides (Glycans)IBA 04/2021 - 05/2003
7	Transferrin (beta 2 Transferrin)IBA 01/2017 - 01/2004
4	phosphomannomutaseIBA 01/2019 - 04/2011
3	Transaminases (Aminotransferases)IBA 09/2021 - 01/2016
3	Growth Hormone (Somatotropin)IBA 11/2012 - 01/2006
3	Serine (L-Serine)FDA Link 05/2007 - 12/2002
2	Insulin-Like Growth Factor I (IGF-1)IBA 02/2022 - 12/2016
2	PhosphoglucomutaseIBA 01/2021 - 12/2016
2	Immunoglobulins (Immunoglobulin)IBA 12/2019 - 09/2008
2	GlycolipidsIBA 01/2016 - 12/2005
2	OligosaccharidesIBA 01/2016 - 11/2002
2	NucleotidesIBA 06/2015 - 05/2003
2	Protein Isoforms (Isoforms)IBA 04/2011 - 01/2008
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 05/2007 - 12/2002
1	IGF Type 1 Receptor (IGF 1 Receptor)IBA 02/2022
1	Glucose-6-PhosphateIBA 03/2021
1	GlycogenIBA 01/2021
1	Biomarkers (Surrogate Marker)IBA 01/2021
1	Monomeric GTP-Binding ProteinsIBA 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2020
1	Diazoxide (Hyperstat)FDA Link 01/2020
1	Serotonin (5 Hydroxytryptamine)IBA 05/2019
1	Vesicular Monoamine Transport Proteins (Vesicular Monoamine Transporter)IBA 05/2019
1	Acetazolamide (Diamox)FDA LinkGeneric 01/2019
1	Peptide Hydrolases (Proteases)FDA Link 01/2019
1	Tiopronin (Thiola)FDA Link 01/2019
1	Bicarbonates (Hydrogen Carbonate)IBA 01/2019
1	Leukocyte Elastase (Neutrophil Elastase)IBA 01/2019
1	voltage-dependent calcium channel (P-Q type)IBA 01/2019
1	pro-matrix metalloproteinase 9IBA 01/2019
1	Mannose (D-Mannose)IBA 12/2018
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 04/2018
1	Familial apoceruloplasmin deficiencyIBA 01/2018
1	UridineIBA 01/2017
1	Glucose (Dextrose)FDA LinkGeneric 12/2016
1	Alkaline PhosphataseIBA 02/2016
1	CopperIBA 02/2016
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2016
1	1,3-alpha-D-glucan synthaseIBA 01/2016
1	Pharmaceutical PreparationsIBA 10/2015
1	Glycoside Hydrolases (Endoglycosidases)IBA 06/2015
1	GlycosyltransferasesIBA 06/2015
1	SugarsIBA 06/2015

Therapy/Procedure

4	Therapeutics 01/2022 - 11/2018
1	Activities of Daily Living (ADL) 08/2021
1	Liver Transplantation 02/2016