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Amaka C Offiah Selected Research

Acromesomelic dysplasia

1/2022Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
8/2021A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.

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Amaka C Offiah Research Topics

Disease

3Osteogenesis Imperfecta (Lobstein Disease)
01/2022 - 01/2018
2Acromesomelic dysplasia
01/2022 - 08/2021
2Achondroplasia
01/2021 - 01/2021
2Metabolic Bone Diseases (Osteopenia)
01/2021 - 01/2019
2Chromosome Aberrations (Chromosome Abnormalities)
01/2019 - 07/2015
2Antley-Bixler Syndrome Phenotype
01/2018 - 07/2015
1Infections
03/2021
1Pathologic Constriction (Stenosis)
01/2021
1Inflammation (Inflammations)
10/2020
1Ankle Injuries (Ankle Injury)
06/2019
1sponastrime type Spondyloepimetaphyseal dysplasia
01/2019
1Strudwick syndrome
01/2019
1Acrodysostosis
01/2019
1Hypochondrogenesis
01/2019
1Achondrogenesis
01/2019
1Cleidocranial Dysplasia (Cleidocranial Dysostosis)
01/2019
1Hypophosphatasia
01/2019
1Pseudohypoparathyroidism
01/2019
1Pseudopseudohypoparathyroidism
01/2019
1Scoliosis
01/2019
1Spina Bifida Occulta
01/2019
1Campomelic Dysplasia
01/2019
1Heart Failure
09/2017
1Hyperthyroidism
09/2017
1Goiter
09/2017
1Cardiomyopathies (Cardiomyopathy)
09/2017
1Facies
09/2017
1Respiratory Tract Infections (Respiratory Tract Infection)
09/2017
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
09/2017
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
07/2015
1Rhizomelic Chondrodysplasia Punctata
07/2015
1Congenital Abnormalities (Deformity)
07/2015
1Desmosterolosis
07/2015
1Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
07/2015
1Lathosterolosis
07/2015
1HEM dysplasia
07/2015
1Chondrodysplasia Punctata (Stippled Epiphyses)
07/2015
1Autoimmune Diseases (Autoimmune Disease)
07/2015
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
07/2015
1Peroxisomal Disorders (Peroxisomal Disorder)
07/2015
1Brachytelephalangic Chondrodysplasia Punctata
07/2015
1Spinal Cord Compression
01/2015
1Megalencephaly
08/2014
1Constipation
08/2014
1Apraxias (Dyspraxia)
08/2014
1Cystinosis
09/2013
1Exocrine Pancreatic Insufficiency
09/2013
1Muscular Diseases (Myopathy)
09/2013
1Blindness (Hysterical Blindness)
09/2013
1Hip Dislocation
12/2011
1Accidental Injuries
08/2009
1Rib Fractures (Rib Fracture)
08/2009
1Wounds and Injuries (Trauma)
08/2009

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
01/2022 - 08/2014
2Natriuretic PeptidesIBA
01/2022 - 01/2021
2Vitamin DFDA LinkGeneric
01/2021 - 06/2019
2Thyroid HormonesIBA
09/2017 - 08/2014
14-nitrophenylphosphorylcholine (NPPC)IBA
01/2022
1Cysteine (L-Cysteine)FDA Link
01/2022
1Protein Kinases (Protein Kinase)IBA
01/2022
1aminotris(methylenephosphonato)diamminoplatinum (II) (AMDP)IBA
01/2022
1atrial natriuretic factor receptor BIBA
08/2021
1Pharmaceutical PreparationsIBA
01/2021
1vosoritideIBA
01/2021
1Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA
01/2021
1CalciumIBA
06/2019
1Adenosine Monophosphate (AMP)IBA
01/2019
12- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA
01/2019
15-phenylpent-4-enyl-1-hydroperoxideIBA
01/2019
1N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
01/2019
1CamptothecinIBA
01/2019
1Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA
01/2019
1Parathyroid Hormone-Related ProteinIBA
01/2019
1CytokinesIBA
01/2018
1Methotrexate (Mexate)FDA LinkGeneric
01/2018
13,3',5-triiodothyroacetic acid (Triac)IBA
09/2017
1AcidsIBA
09/2017
1Antithyroid Agents (Antithyroid Drugs)IBA
09/2017
1Thyrotropin (Thyroid-Stimulating Hormone)FDA Link
09/2017
1CarbimazoleIBA
09/2017
1Carrier Proteins (Binding Protein)IBA
07/2015
1emopamil (levemopamil)IBA
07/2015
1SqualeneIBA
07/2015
1SterolsIBA
07/2015
1Vitamin KFDA Link
07/2015
1CholesterolIBA
07/2015
1Thyroxine (Levothyroxine)FDA LinkGeneric
08/2014
1Creatine Kinase (Creatine Phosphokinase)IBA
08/2014
1Cystine (L-Cystine)IBA
09/2013
1Retinaldehyde (Retinal)IBA
09/2013

Therapy/Procedure

2Therapeutics
03/2021 - 09/2017
2Resuscitation
01/2021 - 08/2009
1Decompression
01/2021
1Injections
10/2020
1Spinal Fusion (Spondylosyndesis)
01/2019
1Anesthesia
01/2015
1Aftercare (After-Treatment)
08/2014
1Operative Surgical Procedures
12/2011