M E Rubio-Gozalbo Selected Research

Congenital disorder of glycosylation type 1C

6/2000

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

M E Rubio-Gozalbo Research Topics

Disease

3	Phenylketonurias (Phenylketonuria) 01/2011 - 06/2001
2	Galactosemias (Galactosemia) 01/2019 - 10/2004
2	Disease Progression 08/2008 - 01/2000
1	Propionic Acidemia 01/2021
1	Cognitive Dysfunction 01/2021
1	Rare Diseases (Rare Disease) 01/2019
1	Hydrocephalus (Hydrocephaly) 03/2013
1	Seizures (Absence Seizure) 02/2011
1	Microcephaly 02/2011
1	Reye Syndrome (Reye's Syndrome) 06/2010
1	Dihydropyrimidine Dehydrogenase Deficiency 06/2010
1	MELAS Syndrome (Syndrome, MELAS) 08/2008
1	Hyperammonemia 10/2004
1	Bone Resorption 07/2002
1	Brain Diseases (Brain Disorder) 01/2002
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 10/2001
1	Neuroleptic Malignant Syndrome 10/2001
1	Congenital disorder of glycosylation type 1C 06/2000

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2008
2	sapropterin (tetrahydrobiopterin)FDA Link 01/2011 - 06/2001
2	Phenylalanine (L-Phenylalanine)FDA Link 01/2011 - 06/2001
1	EnzymesIBA 01/2019
1	galactose-1-phosphateIBA 01/2019
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 03/2013
1	Serine (L-Serine)FDA Link 02/2011
1	Phosphoglycerate Dehydrogenase (Dehydrogenase, Phosphoglycerate)IBA 02/2011
1	pyrimidineIBA 06/2010
1	ThymineIBA 06/2010
1	UracilIBA 06/2010
1	Dihydrouracil Dehydrogenase (NADP) (Dihydropyrimidine Dehydrogenase)IBA 06/2010
1	Complement System Proteins (Complement)IBA 08/2008
1	Galactose (Galactopyranose)FDA LinkGeneric 10/2004
1	acylcarnitineIBA 10/2004
1	Carnitine (L-Carnitine)FDA LinkGeneric 10/2004
1	Creatine Kinase (Creatine Phosphokinase)IBA 10/2004
1	Transaminases (Aminotransferases)IBA 10/2004
1	Parathyroid Hormone (Parathormone)IBA 07/2002
1	Dietary CalciumIBA 07/2002
1	calcium phosphateIBA 07/2002
1	Vitamin D FDA LinkGeneric 07/2002
1	OsteocalcinIBA 07/2002
1	Alkaline PhosphataseIBA 07/2002
1	N-acetyl glutamate synthetase deficiencyIBA 01/2002
1	Clopenthixol (Zuclopenthixol)IBA 10/2001
1	Simvastatin (Zocor)FDA LinkGeneric 10/2001
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 06/2001
1	Polysaccharides (Glycans)IBA 06/2000
1	Mitochondrial DNA (mtDNA)IBA 01/2000

Therapy/Procedure

2	Therapeutics 01/2019 - 10/2001