Joseph J Orsini Selected Research

Globoid Cell Leukodystrophy (Krabbe Disease)

5/2021	Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
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.
1/2018	Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
8/2017	Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
12/2016	Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
11/2016	Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?
11/2016	Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's 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.

For more, sign up at right for free...

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!

Joseph J Orsini Research Topics

Disease

12	Globoid Cell Leukodystrophy (Krabbe Disease) 05/2021 - 06/2009
3	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 12/2017 - 12/2016
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2019 - 01/2016
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2018 - 01/2017
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 01/2009
2	Adrenal Insufficiency (Adrenal Gland Hypofunction) 12/2017 - 12/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 05/2021
1	Disease Progression 09/2015
1	Mucopolysaccharidosis I (Hurler Syndrome) 09/2011
1	Gaucher Disease (Gaucher's Disease) 01/2011
1	Fabry Disease (Fabry's Disease) 10/2010

Drug/Important Bio-Agent (IBA)

9	GalactosylceramidaseIBA 05/2021 - 09/2015
6	Psychosine (Galactosylsphingosine)IBA 05/2021 - 04/2013
5	EnzymesIBA 05/2021 - 01/2009
2	CholesterolIBA 01/2019 - 01/2016
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 08/2017
2	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 12/2017 - 11/2017
2	AcidsIBA 01/2017 - 01/2011
2	GlucosidasesIBA 01/2017 - 01/2011
1	Carnitine (L-Carnitine)FDA LinkGeneric 12/2017
1	We 201IBA 11/2017
1	Bile Acids and Salts (Bile Acids)IBA 01/2016
1	alpha-Galactosidase (Beano)IBA 10/2010
1	DNA (Deoxyribonucleic Acid)IBA 06/2009

Therapy/Procedure

4	Hematopoietic Stem Cell Transplantation 05/2021 - 09/2015
1	Stem Cell Transplantation 01/2018
1	Transplantation 01/2018
1	Cell Transplantation 12/2016
1	Therapeutics 12/2016