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HypophosphatasiaHypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase and defective bone mineralization. Both autosomal recessive and autosomal dominant variants of the disease exist. The disease comes in one of five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other forms are generally non-lethal. Common symptoms include bone malformations and higher chance of bone fracture. Both the adult form and odontohypophosphatasial form are marked by premature teeth loss.There is no known cure for hypophosphatasia. However, there have been some claims that choline may have positive health benefits for those with the disease that take it as a dietary supplement. (From the Wikpedia article Hypophosphatasia.) Download PDF containing detailed information.
Recent Publications on Hypophosphatasia: |  |
Vitamin B6 dependent seizures.
Vitamin B6 is an abundant cofactor in aminoacid- and neurotransmitter... | 3rd November, 2009
| Division of Biochemical Diseases and Cystic Fibrosis, Children's and
| Can J Neurol Sci. 2009 Aug;36 Suppl 2:S73-7.
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[Hypophosphatasia]
Hypophosphatasia (HP) is an inborn error of bone metabolism transmitted... | 3rd November, 2009
| Bereiche Immunologie, Infektiologie, Hamostasiologie, Rheumatologie,
| Klin Padiatr. 2009 Jul-Aug;221(4):219-26. Epub 2009 Jul 23.
DOI Direct Link |
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.
Hypophosphatasia (HPP) is the inborn error of metabolism characterized by... | 3rd November, 2009
| Center for Metabolic Bone Disease and Molecular Research, Shriners
| J Bone Miner Res. 2009 Aug;24(8):1493-505.
DOI Direct Link |
Mesenchymal stem cells for bone repair and metabolic bone diseases.
Human mesenchymal stem cells offer a potential alternative to embryonic... | 23rd October, 2009
| Endocrine Research Unit, Mayo Clinic, Rochester, MN 55905, USA.
| Mayo Clin Proc. 2009 Oct;84(10):893-902.
DOI Direct Link |
Comment on "Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency".
Vitamin B6 is an abundant cofactor in aminoacid- and neurotransmitter... | 21st August, 2009
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| Indian J Pediatr. 2009 Jul;76(7):761; author reply 761.
DOI Direct Link |
→View more research publications. |
Press Releases About Hypophosphatasia:
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| Enobia Expands Clinical Program for ENB-0040, a Bone-Targeted Enzyme Replacement Therapy for Hypophosphatasia |
3rd November, 2009 |
Enobia Pharma Inc. |
MONTREAL, Nov. 3 /PRNewswire/ -- Enobia Pharma announced today the initiation of a Phase 2 clinical study of ENB-0040, a bone-targeted enzyme replacement therapy, under investigation for the treatment
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| Enobia Announces Positive Clinical Results With ENB-0040, a Bone Targeted Enzyme Replacement Therapy for Hypophosphatasia |
14th September, 2009 |
Enobia Pharma Inc. |
DENVER, Sept. 14 /PRNewswire/ -- Enobia Pharma today announced positive data from a clinical study of ENB-0040, a bone targeted enzyme replacement therapy, under investigation for the treatment of
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| Enobia Completes Target Enrollment in Clinical Trial for Infantile Hypophosphatasia |
3rd March, 2009 |
Enobia Pharma Inc. |
MONTREAL, March 3 /PRNewswire/ -- Enobia Pharma, an emerging Canadian biotech company focused on developing novel therapeutics for serious bone disorders, today announced completion of target
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| Enobia Pharma Initiates Clinical Testing of Enzyme Replacement Therapy to Treat Hypophosphatasia |
20th August, 2008 |
Enobia Pharma |
MONTREAL, Aug. 20 /PRNewswire/ -- Enobia Pharma, an emerging biotech
company focused on developing novel therapeutics for serious bone disorders,
today announced that the first patient in its
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Wikipedia excerpt, where present, licenced under the GNU Free Documentation License. Resources from the NCBI applied. Selected MeSH subject headings created and maintained by the US NLM are used in conjunction with additional keywords. 2006-2008 MeSH.
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