Literature DB >> 20978533

Clinical utility gene card for: hypophosphatasia.

Etienne Mornet1, Christine Beck, Agnès Bloch-Zupan, Hermann Girschick, Martine Le Merrer.   

Abstract

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Year:  2010        PMID： 20978533      PMCID： PMC3061990          DOI： 10.1038/ejhg.2010.170

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  28 in total

1.  Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.

Authors:  R M Pauli; P Modaff; S L Sipes; M P Whyte
Journal:  Am J Med Genet       Date:  1999-10-29

2.  Hypophosphatasia.

Authors:  D FRASER
Journal:  Am J Med       Date:  1957-05       Impact factor: 4.965

3.  Adult hypophosphatasia treated with teriparatide.

Authors:  Michael P Whyte; Steven Mumm; Chad Deal
Journal:  J Clin Endocrinol Metab       Date:  2007-01-09       Impact factor: 5.958

4.  Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images.

Authors:  M Sinico; J M Levaillant; A Vergnaud; J R Blondeau; F Encha-Razavi; E Mornet; M Le Merrer; M Gerard-Blanluet
Journal:  Prenat Diagn       Date:  2007-03       Impact factor: 3.050

5.  A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

Authors:  A S Lia-Baldini; I Brun-Heath; C Carrion; B Simon-Bouy; J L Serre; M E Nunes; E Mornet
Journal:  Hum Genet       Date:  2008-03-14       Impact factor: 4.132

6.  Neurosurgical aspects of childhood hypophosphatasia.

Authors:  H Collmann; E Mornet; S Gattenlöhner; C Beck; H Girschick
Journal:  Childs Nerv Syst       Date:  2008-09-04       Impact factor: 1.475

7.  Treatment of adult hypophosphatasia with teriparatide.

Authors:  Pauline M Camacho; Stephanie Painter; Ruth Kadanoff
Journal:  Endocr Pract       Date:  2008-03       Impact factor: 3.443

8.  Long-term follow-up of bone mineral density in childhood hypophosphatasia.

Authors:  Hermann Josef Girschick; Imme Haubitz; Olaf Hiort; Peter Schneider
Journal:  Joint Bone Spine       Date:  2007-03-15       Impact factor: 4.929

9.  Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Authors:  David A Stevenson; John C Carey; Stephen P Coburn; Karen L Ericson; Janice L B Byrne; Steven Mumm; Michael P Whyte
Journal:  J Clin Endocrinol Metab       Date:  2008-06-17       Impact factor: 5.958

10.  Enzyme replacement therapy for murine hypophosphatasia.

Authors:  José Luis Millán; Sonoko Narisawa; Isabelle Lemire; Thomas P Loisel; Guy Boileau; Pierre Leonard; Svetlana Gramatikova; Robert Terkeltaub; Nancy Pleshko Camacho; Marc D McKee; Philippe Crine; Michael P Whyte
Journal:  J Bone Miner Res       Date:  2008-06       Impact factor: 6.741
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  5 in total

1.  Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.

Authors:  Carrie M Nielson; Joseph M Zmuda; Amy S Carlos; Wendy J Wagoner; Emily A Larson; Eric S Orwoll; Robert F Klein
Journal:  J Bone Miner Res       Date:  2012-01       Impact factor: 6.741

2.  Acute hypophosphatasemia.

Authors:  F E McKiernan; L K Shrestha; R L Berg; J Fuehrer
Journal:  Osteoporos Int       Date:  2013-08-03       Impact factor: 4.507

3.  Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.

Authors:  Michael P Whyte; Cheryl Rockman-Greenberg; Keiichi Ozono; Richard Riese; Scott Moseley; Agustin Melian; David D Thompson; Nicholas Bishop; Christine Hofmann
Journal:  J Clin Endocrinol Metab       Date:  2015-11-03       Impact factor: 5.958

Review 4.  Hypophosphatasia: an overview of the disease and its treatment.

Authors:  M L Bianchi
Journal:  Osteoporos Int       Date:  2015-08-06       Impact factor: 4.507

5.  Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.

Authors:  Nerea Alonso; Beatriz Larraz-Prieto; Kathryn Berg; Zoe Lambert; Paul Redmond; Sarah E Harris; Ian J Deary; Carys Pugh; James Prendergast; Stuart H Ralston
Journal:  J Bone Miner Res       Date:  2020-01-07       Impact factor: 6.390
  5 in total

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