Alison Skrinar Selected Research

Muscular Diseases (Myopathy)

1/2019	A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
1/2018	Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
1/2017	Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.
1/2016	Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.
4/2010	A randomized study of alglucosidase alfa in late-onset Pompe's disease.

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Alison Skrinar Research Topics

Disease

7	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 01/2022 - 01/2018
7	Rickets (Rachitis) 01/2022 - 01/2018
5	Pain (Aches) 04/2022 - 01/2018
5	Muscular Diseases (Myopathy) 01/2019 - 04/2010
4	Congenital Abnormalities (Deformity) 01/2022 - 01/2018
3	Hypophosphatemia 01/2022 - 01/2018
3	Glycogen Storage Disease Type II (Pompe's Disease) 04/2010 - 04/2007
2	Body Weight (Weight, Body) 01/2018 - 04/2010
1	Hyperparathyroidism 04/2022
1	Nephrocalcinosis 04/2022
1	Musculoskeletal Diseases (Musculoskeletal Disease) 01/2022
1	Abscess 01/2022
1	Fatigue 01/2021
1	Wasting Syndrome (Wasting Disease) 01/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Distal Myopathies (Distal Muscular Dystrophy) 01/2018
1	Osteomalacia 01/2018
1	Nonaka type Distal myopathy 01/2017

Drug/Important Bio-Agent (IBA)

8	Phosphates (Orthophosphate)IBA 01/2022 - 01/2018
7	burosumabIBA 01/2022 - 01/2018
6	Fibroblast Growth Factor-23IBA 01/2022 - 01/2018
5	Phosphorus (Red Phosphorus)IBA 01/2021 - 01/2018
4	Monoclonal AntibodiesIBA 01/2022 - 01/2018
4	AcidsIBA 01/2019 - 04/2007
4	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2019 - 01/2016
3	Vitamin D FDA LinkGeneric 01/2022 - 07/2019
2	Alkaline PhosphataseIBA 01/2022 - 01/2021
2	EnzymesIBA 01/2017 - 04/2010
2	alpha-Glucosidases (Acid Maltase)IBA 04/2010 - 04/2007
2	GlycogenIBA 04/2010 - 04/2007
2	human GAA protein (Myozyme)FDA Link 04/2010 - 03/2009
1	Calcitriol (Calcijex)FDA LinkGeneric 01/2022
1	SaltsIBA 01/2022
1	CreatinineIBA 01/2019
1	PHEX Phosphate Regulating Neutral EndopeptidaseIBA 01/2019

Therapy/Procedure

5	Therapeutics 04/2022 - 01/2018
1	Parathyroidectomy 04/2022