Horacio Plotkin Selected Research

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

1/2021

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

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Horacio Plotkin Research Topics

Disease

8	Osteogenesis Imperfecta (Lobstein Disease) 10/2013 - 11/2002
3	Disease Progression 05/2003 - 03/2003
2	Hypophosphatasia 01/2015 - 09/2012
2	Rickets (Rachitis) 09/2012 - 11/2002
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Chronic Renal Insufficiency 01/2016
1	Craniosynostoses (Craniosynostosis) 01/2015
1	Glycogen Storage Disease Type II (Pompe's Disease) 11/2012
1	Seizures (Absence Seizure) 09/2012
1	Tooth Abnormalities 09/2012
1	Hypercalcemia (Milk Alkali Syndrome) 09/2012
1	Respiratory Insufficiency (Respiratory Failure) 09/2012
1	Metabolic Bone Diseases (Osteopenia) 09/2006
1	Cerebral Palsy (Spastic Diplegia) 09/2006
1	Pseudarthrosis (Pseudoarthrosis) 05/2005
1	Bone Diseases (Bone Disease) 11/2003
1	Polyostotic Fibrous Dysplasia (McCune Albright Syndrome) 10/2003
1	Pain (Aches) 10/2003
1	Bone Resorption 03/2003

Drug/Important Bio-Agent (IBA)

7	Pamidronate (Aredia)FDA LinkGeneric 09/2006 - 11/2002
5	Diphosphonates (Bisphosphonates)IBA 10/2013 - 10/2003
2	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/2015 - 09/2012
2	MineralsIBA 09/2012 - 03/2003
1	Congenital disorder of glycosylation type 1AIBA 01/2021
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2021
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021
1	phosphomannomutaseIBA 01/2021
1	Endothelin-1 (Endothelin 1)IBA 01/2016
1	Risedronic Acid (Actonel)FDA LinkGeneric 10/2013
1	EnzymesIBA 11/2012
1	AcidsIBA 11/2012
1	GlucosidasesIBA 11/2012
1	VitaminsIBA 09/2012
1	IsoenzymesIBA 09/2012
1	Alkaline PhosphataseIBA 09/2012
1	Collagen Type I (Type I Collagen)IBA 03/2003
1	CreatinineIBA 03/2003
1	collagen type I trimeric cross-linked peptideIBA 03/2003
1	Phosphorus (Red Phosphorus)IBA 11/2002

Therapy/Procedure

5	Therapeutics 01/2021 - 03/2003
1	Enzyme Replacement Therapy 01/2015
1	Osteotomy 05/2005
1	Intravenous Infusions 10/2003