Alan Ma Selected Research

Therapeutics

3/2022	Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
1/2019	Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

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Alan Ma Research Topics

Disease

2	Neoplasms (Cancer) 01/2022 - 01/2014
1	Retinal Dystrophies 03/2022
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2022
1	Malformations of Cortical Development 12/2021
1	congenital fibrosis of the extraocular muscles 12/2021
1	Myalgia 02/2021
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2021
1	Hypoglycemia (Reactive Hypoglycemia) 01/2019
1	Pulmonary Hypertension 01/2019
1	Critical Illness (Critically Ill) 01/2019
1	CHARGE Syndrome 01/2016
1	Infections 01/2016
1	Lymphopenia (Lymphocytopenia) 01/2016
1	Hypersensitivity (Allergy) 01/2014
1	Microcephaly 01/2014
1	Nijmegen Breakage Syndrome 01/2014

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 03/2022 - 01/2016
1	Retinaldehyde (Retinal)IBA 03/2022
1	GTP Phosphohydrolases (GTPases)IBA 03/2022
1	TubulinIBA 12/2021
1	RNA (Ribonucleic Acid)IBA 02/2021
1	DystrophinIBA 02/2021
1	Sildenafil Citrate (Viagra)FDA Link 01/2019
1	Glyburide (Glibenclamide)FDA LinkGeneric 01/2019
1	CalciumIBA 01/2016
1	VaccinesIBA 01/2016
1	Polysaccharides (Glycans)IBA 01/2016
1	Immunoglobulins (Immunoglobulin)IBA 01/2016
1	Immunoglobulin G (IgG)IBA 01/2016
1	Immunoglobulin A (IgA)IBA 01/2016
1	Ligases (Synthetase)IBA 01/2014

Therapy/Procedure

2	Therapeutics 03/2022 - 01/2019
1	Ligation 02/2021