|2.||Vascular Diseases (Vascular Disease)
|3.||Bone Diseases (Bone Disease)
|1.||Mornet, Etienne: 25 articles (11/2015 - 10/2002)|
|2.||Whyte, Michael P: 24 articles (06/2015 - 01/2002)|
|3.||Millán, José Luis: 23 articles (12/2015 - 04/2004)|
|4.||Mumm, Steven: 16 articles (06/2015 - 02/2002)|
|5.||Mornet, E: 16 articles (01/2012 - 01/2000)|
|6.||Orimo, Hideo: 13 articles (03/2014 - 01/2002)|
|7.||Narisawa, Sonoko: 12 articles (12/2015 - 04/2004)|
|8.||Oda, Kimimitsu: 12 articles (08/2015 - 02/2002)|
|9.||Coburn, Stephen P: 9 articles (06/2015 - 01/2002)|
|10.||Shimada, Takashi: 8 articles (12/2015 - 01/2002)|
08/01/2008 - "Based on studies of hypophosphatasia, which is a systemic skeletal disorder resulting from tissuenonspecific alkaline phosphatase (TNSALP) deficiency, TNSALP was suggested to be indispensable for bone mineralization. "
05/01/2007 - "The diagnosis of hypophosphatasia is strongly suspected in front of Reduced serum alkaline phosphatase activity and confirmed by the genetic study. "
05/01/2005 - "A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. "
10/15/2001 - "Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene."
05/01/2000 - "The detection of tissue-nonspecific alkaline phosphatase gene mutations and expression studies to determine the enzymatic activity of mutant gene products was useful for assessing the clinical course of this patient with hypophosphatasia."
|2.||Teriparatide (Parathar)FDA Link
03/01/2012 - "Failure of teriparatide in treatment of bone complications of adult hypophosphatasia."
03/01/2010 - "Lack of sustained response to teriparatide in a patient with adult hypophosphatasia."
09/01/2009 - "Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report."
03/01/2008 - "Teriparatide may prove to be a viable treatment for adult hypophosphatasia; thus, this intervention warrants further evaluation."
03/01/2008 - "To describe the effects of 24 months of teriparatide therapy in an adult with hypophosphatasia, which thus far has no established medical treatment. "
|3.||Biological Markers (Surrogate Marker)IBA
03/01/2008 - "In one woman with adult hypophosphatasia, 2 years of teriparatide treatment improved biochemical markers of bone remodeling and increased skeletal mineralization. "
01/01/1991 - "The levels of serum osteocalcin were low, which may be a useful biochemical marker to diagnose hypophosphatasia. "
07/01/2002 - "Nonmyeloablative BMT plus mesenchymal stem cells (stromal cells) was effective treatment for a form of collagen-vascular disease and also a lethal form of hypophosphatasia. "
08/01/1988 - "We have examined collagen from a patient with the rare type IIC form of perinatally lethal osteogenesis imperfecta, in whom biochemical characteristics of hypophosphatasia were also apparent. "
08/01/1988 - "Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia."
04/01/2004 - "Deletion of the TNAP gene (Akp2) in mice results in hypophosphatasia characterized by elevated levels of PP(i) and poorly mineralized bones, which are rescued by deletion of nucleotide pyrophosphatase phosphodiesterase 1 (NPP1) that generates PP(i). "
06/01/2005 - "We have shown previously that the hypomineralization defects of the calvarium and vertebrae of tissue nonspecific alkaline phosphatase (TNAP)-deficient (Akp2-/-) hypophosphatasia mice are rescued by simultaneous deletion of the Enpp1 gene, which encodes nucleotide pyrophosphatase phosphodiesterase 1 (NPP1). "
06/01/2005 - "Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice."
|6.||Factor IX (PTC)FDA LinkGeneric
|7.||ruberythric acid (AlP)IBA
05/01/2005 - "Based on studies of hypophosphatasia, which is a systemic skeletal disorder resulting from a tissue-nonspecific ALP (TNSALP) deficiency, TNSALP was suggested to be indispensable for bone mineralization. "
02/04/2005 - "This study indicated that the mutant (A115V) TNSALP gene produced the defective ALP enzyme and it could be recessively transmitted and be a disease-causing mutation of the adult-type hypophosphatasia."
02/01/1985 - "Further studies of the mechanisms resulting in this difference in ALP activity should help elucidate the mechanisms for aberrant expression of ALP in malignancy and for manipulation of low ALP activity in hypophosphatasia."
12/01/2013 - "Clinical trial of recombinant ALP for infantile hypophosphatasia has already started in Japan. "
01/01/2013 - "Six missense mutations were identified in three Chinese hypophosphatasia pedigrees with subnormal serum ALP activity. "
|8.||N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
11/01/2015 - "Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. "
05/01/2015 - "Mutations in ALPL result in hypophosphatasia (HPP), a disease causing defective skeletal mineralization. "
01/01/2015 - "Hypophosphatasia (HPP) is a rare monogenetic and multisystemic disease with involvement of different organs, including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. "
10/01/2014 - "Hypophosphatasia (HPP) is a clinically heterogeneous rare, inherited disorder of bone and mineral metabolism with extensive allelic heterogeneity in the ALPL gene. "
03/01/2014 - "We examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. "
12/01/1959 - "A genetical study of ethanolamine phosphate excretion in hypophosphatasia."
12/01/2012 - "Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening."
01/01/1994 - "Urinary phosphoethanolamine, a typical marker of hypophosphatasia, was absent from all specimens, which rules out the possible diagnosis of such disorder in these patients. "
06/01/1980 - "[Hypophosphatasia with normal urinary phosphoethanolamine in a 22-month-old girl]."
01/01/1979 - "Increased urinary excretion of phosphorylethanolamine (P.E.A.) is one of the salient features of hypophosphatasia. "
07/01/2006 - "They suggest potential advantages for use of these tagged enzymes in ERT for hypophosphatasia, which should be explored."
07/01/2006 - "In vitro mineralization assays with the bone marrow from a hypophosphatasia patient using each of the three enzymes in the presence of high concentrations of pyrophosphate provided evidence of bone mineralization. "
08/01/2002 - "After introducing each single hypophosphatasia mutation, the setTNAP and mutant TNAP cDNAs were expressed in COS-1 cells and the recombinant flagged enzymes were affinity purified. "
10/01/2013 - "Inactivating mutations in these enzymes in humans and in mouse models lead to the soft bones and teeth characteristic of hypophosphatasia and X-linked hypophosphatemia, respectively, where the levels of local and systemic circulating mineralization determinants are perturbed. "
10/01/2013 - "Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia."
|1.||Enzyme Replacement Therapy
09/01/1982 - "Study of additional cases of hypophosphatasia will be necessary to assess the clinical efficacy of this form of enzyme replacement therapy."
03/08/2012 - "ENB-0040, an enzyme-replacement therapy, was associated with improved findings on skeletal radiographs and improved pulmonary and physical function in infants and young children with life-threatening hypophosphatasia. "
09/01/2012 - "The goal of this study was to characterize pulmonary and thoracic cage mechanics in an infant with the perinatal lethal form of hypophosphatasia under enzyme replacement therapy. "
01/01/2015 - "Recombinant Enzyme Replacement Therapy in Hypophosphatasia."
03/01/2014 - "Enzyme replacement therapy on hypophosphatasia mouse model."
|2.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
01/01/2015 - "Ex Vivo Expanded Allogeneic Mesenchymal Stem Cells With Bone Marrow Transplantation Improved Osteogenesis in Infants With Severe Hypophosphatasia."
08/01/2010 - "Bone marrow transplantation has been reported to treat several patients with hypophosphatasia. "
10/01/2007 - "Bone marrow transplantation has been reported to treat patients with hypophosphatasia. "
04/01/2003 - "An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), underwent the first trial of bone marrow cell transplantation for this heritable type of rickets. "
|3.||Transplantation (Transplant Recipients)
08/01/2007 - "Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts."
08/01/2010 - "These findings showed the importance of allogeneic MSC transplantation for the hypophosphatasia patient."
04/01/2010 - "Transplantation of the TNSALP-transduced autologous MSCs might become a new therapy for hypophosphatasia."
06/01/2009 - "We demonstrated the importance of allogeneic MSC transplantation for hypophosphatasia and the constructs as an alternative to bone fragments that provided further osteogenic capability in the patient."
06/01/2013 - "An 8-month-old girl with hypophosphatasia underwent transplantation of haploidentical BM cells followed by two transplants of MSC obtained from her father to facilitate osteogenesis. "
01/01/1986 - "After a 3-month course of weekly intravenous infusions of pooled normal plasma in an attempt at enzyme replacement therapy, we observed gradual and prolonged normalization of circulating alkaline phosphatase (AP) activity in a boy with infantile hypophosphatasia. "
12/01/1984 - "Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients."
12/01/1984 - "After biochemical and radiographic studies, enzyme replacement therapy in three patients with the infantile form of hypophosphatasia was attempted by weekly intravenous infusions of bone alkaline phosphatase-rich (BAP) plasma from patients with Paget bone disease. "
09/01/1982 - "Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease."
09/01/1982 - "Enzyme replacement therapy for a severely affected 6-month-old girl with hypophosphatasia was attempted by repeated intravenous infusions of alkaline phosphatase-rich plasma, obtained by plasmapheresis, from two men with Paget bone disease. "
|5.||Mesenchymal Stem Cell Transplantation