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Hypophosphatasia

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Also Known As:
Hypophosphatasias
Networked: 737 relevant articles (22 outcomes, 41 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Bone Diseases (Bone Disease)
2. Inborn Genetic Diseases (Disease, Hereditary)
3. Metabolic Bone Diseases (Osteopenia)
4. Osteomalacia
5. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)

Experts

1. Whyte, Michael P: 45 articles (01/2022 - 01/2002)
2. Millán, José Luis: 32 articles (12/2021 - 03/2004)
3. Mornet, Etienne: 30 articles (01/2021 - 10/2002)
4. Ozono, Keiichi: 21 articles (12/2020 - 05/2005)
5. Narisawa, Sonoko: 19 articles (12/2021 - 07/2002)
6. Mumm, Steven: 19 articles (01/2020 - 02/2002)
7. Mornet, E: 19 articles (10/2018 - 01/2000)
8. Michigami, Toshimi: 18 articles (09/2021 - 05/2005)
9. Orimo, Hideo: 15 articles (09/2021 - 01/2002)
10. Watanabe, Atsushi: 15 articles (12/2020 - 02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypophosphatasia:
1. asfotase alfaIBA
2. Alkaline PhosphataseIBA
3. N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
4. EnzymesIBA
5. MineralsIBA
6. Phosphoric Diester Hydrolases (Phosphodiesterases)IBA
7. CollagenIBA
8. Monoclonal AntibodiesIBA
9. Adrenal Cortex Hormones (Corticosteroids)IBA
10. nucleotide pyrophosphataseIBA

Therapies and Procedures

1. Therapeutics
2. Enzyme Replacement Therapy
3. Aftercare (After-Treatment)
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Intravenous Infusions