Maria L Escolar Selected Research

Galactosylceramidase

1/2021	Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.
1/2020	Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.
1/2020	The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
1/2019	Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
1/2019	Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
1/2018	A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
8/2017	Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
11/2016	Clinical management of Krabbe disease.
3/2016	Newborn screening for Krabbe disease in New York State: the first eight years' experience.
9/2015	Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.

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Maria L Escolar Research Topics

Disease

18	Globoid Cell Leukodystrophy (Krabbe Disease) 01/2021 - 05/2005
7	Disease Progression 01/2021 - 05/2004
7	Mucopolysaccharidoses 09/2020 - 01/2017
7	Mucopolysaccharidosis I (Hurler Syndrome) 01/2017 - 05/2004
6	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 09/2006
5	Demyelinating Diseases (Demyelinating Disease) 01/2020 - 09/2006
4	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 01/2021 - 01/2019
4	Mucopolysaccharidosis II (Hunter Syndrome) 07/2020 - 05/2011
3	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2021 - 04/2013
2	Mucopolysaccharidosis III (Sanfilippo Syndrome) 04/2022 - 06/2021
2	Rare Diseases (Rare Disease) 06/2021 - 04/2008
2	Nervous System Diseases (Neurological Disorders) 02/2019 - 01/2019
2	Neurologic Manifestations (Neurological Manifestations) 12/2017 - 12/2017
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2017 - 04/2008
2	Cognitive Dysfunction 12/2017 - 08/2011
1	Infections 01/2020
1	Neuroinflammatory Diseases 01/2020
1	Hydrocephalus (Hydrocephaly) 01/2020
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2020
1	Aphasia (Dysphasia) 02/2019
1	Stroke (Strokes) 02/2019
1	Atrophy 01/2019
1	Brain Diseases (Brain Disorder) 12/2017
1	Microcephaly 09/2015
1	Muscular Diseases (Myopathy) 09/2015
1	Factor VII Deficiency (Hypoproconvertinemia) 09/2015
1	Hypermethioninemia 09/2015
1	Leukoencephalopathies 04/2015
1	Graft vs Host Disease (Graft-Versus-Host Disease) 10/2008
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 06/2007
1	Body Weight (Weight, Body) 05/2004

Drug/Important Bio-Agent (IBA)

12	EnzymesIBA 01/2020 - 04/2008
10	GalactosylceramidaseIBA 01/2021 - 09/2015
5	GlycosaminoglycansIBA 07/2020 - 12/2017
5	Biomarkers (Surrogate Marker)IBA 07/2020 - 08/2011
4	Pharmaceutical PreparationsIBA 04/2022 - 01/2019
4	Psychosine (Galactosylsphingosine)IBA 01/2020 - 09/2015
2	fosmetpantotenateIBA 01/2021 - 01/2019
2	Indicators and Reagents (Reagents)IBA 10/2019 - 12/2017
2	Iduronidase (alpha-L-Iduronidase)IBA 11/2014 - 05/2004
1	Sulfoglycosphingolipids (Sulfatides)IBA 01/2021
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 01/2021
1	fludarabineIBA 01/2020
1	Alemtuzumab (Campath)FDA Link 01/2020
1	Galactosylceramides (Galactocerebrosides)IBA 01/2020
1	Hydroxyurea (Hydrea)FDA LinkGeneric 01/2020
1	Melphalan (Alkeran)FDA LinkGeneric 01/2020
1	Thiotepa (Triethylenethiophosphoramide)FDA LinkGeneric 01/2020
1	IronIBA 12/2019
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 01/2019
1	Heparitin Sulfate (Heparan Sulfate)IBA 01/2019
1	Hexosaminidases (Hexosaminidase)IBA 01/2019
1	AdenosylhomocysteinaseIBA 09/2015
1	Sulfates (Sulfates, Inorganic)IBA 05/2011
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2007
1	Antilymphocyte Serum (Anti-Thymocyte Globulin)IBA 05/2004
1	Busulfan (Busulfex)FDA Link 05/2004
1	Cyclophosphamide (Cytoxan)FDA LinkGeneric 05/2004

Therapy/Procedure

12	Transplantation 01/2021 - 05/2004
9	Therapeutics 01/2021 - 04/2015
6	Hematopoietic Stem Cell Transplantation 01/2021 - 04/2013
2	Drug Therapy (Chemotherapy) 01/2020 - 05/2005
2	Activities of Daily Living (ADL) 02/2019 - 01/2019
1	Ventriculostomy 01/2020
1	General Anesthesia 10/2019
1	Liver Transplantation 09/2015
1	Enzyme Replacement Therapy 12/2013
1	Physical Therapy Modalities (Physical Therapy Technique) 11/2006
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 05/2004