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Mercedes Serrano Selected Research

Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)

1/2021Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.
1/2021Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
1/2021Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
11/2020New and potential strategies for the treatment of PMM2-CDG.
11/2019Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
1/2019AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
1/2019International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
1/2017A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
10/2015Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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Mercedes Serrano Research Topics

Disease

9Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2021 - 10/2015
8Cerebellar Diseases (Cerebellar Syndrome)
05/2021 - 10/2015
7Atrophy
05/2021 - 12/2010
7Nervous System Diseases (Neurological Disorders)
01/2020 - 12/2010
5Ataxia (Dyssynergia)
01/2020 - 10/2015
4Inborn Genetic Diseases (Disease, Hereditary)
01/2021 - 11/2008
4Brain Diseases (Brain Disorder)
05/2013 - 11/2007
3Congenital Disorders of Glycosylation
01/2022 - 11/2019
2Migraine with Aura (Familial Hemiplegic Migraine)
01/2020 - 02/2018
2Stroke (Strokes)
02/2018 - 01/2008
2Leigh Disease (Leigh's Disease)
01/2016 - 06/2014
2Infections
01/2016 - 01/2013
2Dystonia (Limb Dystonia)
06/2014 - 09/2012
2Necrosis
09/2012 - 05/2011
2Mitochondrial Diseases (Mitochondrial Disease)
05/2011 - 06/2008
2Kearns-Sayre Syndrome
05/2011 - 08/2010
2Neurologic Manifestations (Neurological Manifestations)
05/2011 - 12/2009
1Lymphopenia (Lymphocytopenia)
01/2021
1Dermatitis
01/2021
1Atopic Dermatitis (Atopic Eczema)
01/2021
1Glycogen Storage Disease XIV
01/2021
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
01/2021
1Drug Resistant Epilepsy
11/2020
1Rare Diseases (Rare Disease)
10/2020
1Inflammation (Inflammations)
10/2020
1Angioedema
10/2020
1Language Development Disorders (Semantic-Pragmatic Disorder)
10/2020
1Intellectual Disability (Idiocy)
10/2020
1Muscle Hypotonia (Hypotonia)
10/2020
1Neurodevelopmental Disorders
10/2020
1Blood Platelet Disorders (Thrombocytopathy)
03/2020
1Episodic Ataxia
01/2020
1Hypertrophy
01/2019
1Asthenia
01/2019
1Dysarthria (Spastic Dysarthria)
12/2018
1Channelopathies
02/2018
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2018
1Friedreich Ataxia (Friedreich's Ataxia)
01/2018
1Basal Ganglia Diseases (Basal Ganglia Disease)
06/2014
1Sepsis (Septicemia)
06/2014
1Tics (Tic)
03/2014
1autosomal recessive Segawa syndrome
07/2013
1Dyskinesias (Dyskinesia)
07/2013
1Parkinson Disease (Parkinson's Disease)
07/2013
1Lactic Acidosis
05/2013
1Meningoencephalitis
01/2013
1Infantile Spasms (West Syndrome)
09/2012
1biotin-responsive Basal ganglia disease
09/2012
1Metabolic Diseases (Metabolic Disease)
08/2012
1Cough
03/2012
1Acute Hemorrhagic Leukoencephalitis (Hurst Syndrome)
05/2011

Drug/Important Bio-Agent (IBA)

11Congenital disorder of glycosylation type 1AIBA
01/2021 - 10/2015
10phosphomannomutaseIBA
01/2022 - 10/2015
5Biotin (Vitamin H)FDA Link
01/2016 - 05/2011
4Thiamine (Aneurin)FDA Link
01/2016 - 09/2012
4Folic Acid (Vitamin M)FDA LinkGeneric
12/2012 - 08/2010
3voltage-dependent calcium channel (P-Q type)IBA
01/2020 - 02/2018
3Proteins (Proteins, Gene)FDA Link
11/2019 - 01/2008
2Acetazolamide (Diamox)FDA LinkGeneric
05/2021 - 01/2019
2Dopamine (Intropin)FDA LinkGeneric
07/2013 - 11/2008
2Levodopa (L Dopa)FDA LinkGeneric
07/2013 - 07/2008
2Biogenic Amines (Biogenic Amine)IBA
06/2013 - 08/2010
2NeopterinIBA
01/2013 - 12/2009
2Oxidoreductases (Dehydrogenase)IBA
05/2011 - 06/2008
25-methyltetrahydrofolateIBA
12/2010 - 08/2010
2Neurotransmitter Agents (Neurotransmitter)IBA
11/2008 - 06/2008
1Glycoproteins (Glycoprotein)IBA
01/2022
1Methylphenidate (Ritalin)FDA LinkGeneric
05/2021
1Immunoglobulin E (IgE)IBA
01/2021
1GlycogenIBA
01/2021
1Adrenocorticotropic Hormone (ACTH)FDA Link
01/2021
1PhosphoglucomutaseIBA
01/2021
1Hydrocortisone (Cortisol)FDA LinkGeneric
01/2021
1ElementsIBA
10/2020
1Hemostatics (Antihemorrhagics)IBA
10/2020
1Factor XII (Hageman Factor)IBA
10/2020
1Lysine AcetyltransferasesIBA
10/2020
1Membrane Glycoproteins (Membrane Glycoprotein)IBA
03/2020
1Blood Coagulation Factors (Coagulation Factor)IBA
11/2019
1ThrombinFDA Link
11/2019
1IronIBA
01/2019
1Bicarbonates (Hydrogen Carbonate)IBA
01/2019
1Histones (Histone)IBA
01/2018
1MicroRNAs (MicroRNA)IBA
01/2018
1Biomarkers (Surrogate Marker)IBA
01/2016
1Pharmaceutical PreparationsIBA
10/2015
1biotin 1IBA
06/2014
1Homovanillic AcidIBA
06/2013
1Leucine (L-Leucine)FDA Link
05/2013
1Isoleucine (L-Isoleucine)FDA Link
05/2013
1Branched-Chain Amino AcidsIBA
05/2013
1Lactic Acid (Lactate)FDA LinkGeneric
05/2013
1Complement System Proteins (Complement)IBA
08/2012
1cloperastineIBA
03/2012
1Indicators and Reagents (Reagents)IBA
05/2011
15,11-methenyltetrahydrohomofolateIBA
05/2011
1Choline (Choline Chloride)IBA
12/2010

Therapy/Procedure

2Therapeutics
01/2021 - 07/2008
1Vagus Nerve Stimulation
11/2020
1Activities of Daily Living (ADL)
03/2014