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Michael B Bober Selected Research

Hypersensitivity (Allergy)

1/2014Extreme growth failure is a common presentation of ligase IV deficiency.

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Michael B Bober Research Topics

Disease

16Achondroplasia
04/2024 - 09/2012
7Mucopolysaccharidosis IV (Morquio Syndrome)
11/2023 - 09/2013
5Osteogenesis Imperfecta (Lobstein Disease)
10/2023 - 05/2014
4Type II Microcephalic Osteodysplastic Primordial Dwarfism
01/2021 - 11/2012
4Dwarfism
01/2021 - 02/2015
3Hydrocephalus (Hydrocephaly)
12/2023 - 01/2016
3Scoliosis
05/2019 - 05/2014
3Pathologic Constriction (Stenosis)
06/2017 - 09/2012
3Microcephaly
01/2017 - 01/2014
3Mucopolysaccharidoses
11/2015 - 09/2013
2Injection Site Reaction
01/2024 - 10/2023
2Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
01/2022 - 02/2015
2Pain (Aches)
12/2021 - 07/2019
2Coxa Vara
07/2019 - 09/2014
2type 1 Microcephalic osteodysplastic primordial dwarfism
01/2019 - 04/2011
2Hypophosphatasia
09/2012 - 03/2012
1Body Weight (Weight, Body)
04/2024
1Pneumonia (Pneumonitis)
01/2024
1Paramyxoviridae Infections (Parainfluenza)
01/2024
1Autistic Disorder (Autism)
01/2024
1Bronchiolitis
01/2024
1Vomiting
01/2024
1Absence Epilepsy (Childhood Absence Epilepsy)
01/2024
1Erythema
01/2024
1Gastroenteritis
01/2024
1Otitis Media
01/2024
1Sudden Infant Death (SID)
01/2024
1Skull Fractures (Skull Fracture)
01/2024
1Diastrophic dysplasia
10/2023
1Cardiomyopathies (Cardiomyopathy)
01/2023
1Congenital Abnormalities (Deformity)
07/2022
1Infections
11/2021
1Wounds and Injuries (Trauma)
11/2021
1Thrombosis (Thrombus)
11/2021
1Cone-Rod Dystrophies
01/2020
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2020
1Giant Cell Tumors (Giant Cell Tumor)
01/2020
1Hypercalcemia (Milk Alkali Syndrome)
01/2020
1Hypocalcemia
01/2020
1Hypothyroidism
01/2020
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2020
1Left Ventricular Dysfunction
01/2020
1Arthralgia (Joint Pain)
01/2020
1congenita Spondyloepiphyseal dysplasia
07/2019
1And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation
12/2018
1Cerebrovascular Disorders (Cerebrovascular Occlusion)
12/2018
1Metatropic dwarfism
06/2017
1Genomic Instability
04/2017
1Rhizomelic Chondrodysplasia Punctata
01/2017
1Peroxisomal Disorders (Peroxisomal Disorder)
01/2017
1Sleep Apnea Syndromes (Sleep Apnea)
01/2016

Drug/Important Bio-Agent (IBA)

6vosoritideIBA
04/2024 - 01/2020
5pericentrinIBA
01/2021 - 11/2012
4C-Type Natriuretic Peptide (Peptide, C-Type Natriuretic)IBA
01/2024 - 02/2015
3Diphosphonates (Bisphosphonates)IBA
11/2021 - 12/2018
2CollagenIBA
10/2023 - 01/2022
2human GALNS proteinIBA
09/2022 - 11/2015
2Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA
01/2022 - 12/2021
2NTproCNPIBA
01/2022 - 02/2015
2Small Nuclear RNA (snRNA)IBA
01/2019 - 04/2011
2Proteins (Proteins, Gene)FDA Link
04/2017 - 10/2016
2condensin complexes (condensin)IBA
01/2017 - 10/2016
2Ligases (Synthetase)IBA
01/2016 - 01/2014
2Keratan SulfateIBA
01/2015 - 09/2013
2Alkaline PhosphataseIBA
09/2012 - 03/2012
1GlycosaminoglycansIBA
10/2023
1AntiportersIBA
10/2023
1Sulfates (Sulfates, Inorganic)IBA
10/2023
1ChloridesIBA
10/2023
1Biomarkers (Surrogate Marker)IBA
10/2023
1LipidsIBA
01/2023
1Ether (Diethyl Ether)IBA
01/2023
1Tyrosine Kinase InhibitorsIBA
01/2022
1infigratinibIBA
01/2022
1Thyroxine (Levothyroxine)FDA LinkGeneric
01/2020
1DenosumabFDA Link
01/2020
1Transaminases (Aminotransferases)IBA
01/2020
1Monoclonal AntibodiesIBA
01/2020
1Thyrotropin (Thyroid-Stimulating Hormone)FDA Link
01/2020
1RANK LigandIBA
01/2020
1DNA Polymerase IIIBA
12/2018
1Anesthetics (Anesthetic Agents)IBA
06/2017
1PlasmalogensIBA
01/2017

Therapy/Procedure

7Therapeutics
04/2024 - 01/2015
5Decompression
12/2023 - 03/2014
4Osteotomy
07/2022 - 07/2012
4Enzyme Replacement Therapy
11/2015 - 03/2012
3Orthopedic Procedures
01/2023 - 01/2015
2Anesthesia
11/2023 - 06/2021
1Ventriculostomy
12/2023
1Subcutaneous Injections
11/2023
1Contraindications
07/2023
1Middle Ear Ventilation (Tympanostomy)
01/2022
1Tonsillectomy
01/2022
1Adenoidectomy
01/2022
1Pain Management
12/2021
1Vascular Access Devices (Arterial Line)
11/2021
1Airway Management
06/2021
1Withholding Treatment
01/2020
1Surgical Decompression
01/2016