English Intern
    Hypophosphatasie

    Originalarbeiten

    • Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C; ENB-010-10 Study Group. Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2735-2747. doi: 10.1210/jc.2018-02335.
    • Whyte MP, Leung E, Wilcox WR, Liese J, Argente J, Martos-Moreno GÁ, Reeves A, Fujita KP, Moseley S, Hofmann C; Study 011-10 Investigators. Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. J Pediatr. 2019 Jun;209:116-124.e4. doi: 10.1016/j.jpeds.2019.01.049. Epub 2019 Apr 9.
    • Högler W, Langman C, Gomes da Silva H, Fang S, Linglart A, Ozono K, Petryk A, Rockman-Greenberg C, Seefried L, Kishnani PS. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord. 2019 Feb 14;20(1):80. doi: 10.1186/s12891-019-2420-8.

    • Genest F, Seefried L. Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia-not atypical at all. Osteoporos Int. 2018 Aug;29(8):1815-1825. doi: 10.1007/s00198-018-4552-3. Epub 2018 May 17.

    • Seefried L, Baumann J, Hemsley S, Hofmann C, Kunstmann E, Kiese B, Huang Y, Chivers S, Valentin MA, Borah B, Roubenoff R, Junker U, Jakob F. Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. J Clin Invest. 2017 Jun 1;127(6):2148-2158. doi: 10.1172/JCI83731. Epub 2017 Apr 24.
    • Mentrup B, Girschick H, Jakob F, Hofmann C. A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. Bone. 2017 Jan;94:75-83. doi: 10.1016/j.bone.2016.10.022.

    • Aeby M, Wyss T, Mentrup B, Kunstmann E, Jakob F, Aeberli D. Low-energy trauma-induced intercondylar femoral fracture. Clin Cases Miner Bone Metab. 2016 May-Aug;13(2):151-153.
    • Diener S, Bayer S, Sabrautzki S, Wieland T, Mentrup B, Przemeck GK, Rathkolb B, Graf E, Hans W, Fuchs H, Horsch M, Schwarzmayr T, Wolf E, Klopocki E, Jakob F, Strom TM, Hrabě de Angelis M, Lorenz-Depiereux B. Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Mamm Genome. 2016 Apr;27(3-4):111-21. doi: 10.1007/s00335-016-9619-x. Epub 2016 Jan 23.

    • Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, Thompson DD, Bishop N, Hofmann C. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2016 Jan;101(1):334-42. doi: 10.1210/jc.2015-3462. Epub 2015 Nov 3.
    • Wesselsky V, Kitz C, Jakob F, Eulert J, Raab P. Description and evaluation of operative deformity correction in calcium-deficiency rickets in Kaduna, northern Nigeria. Int Orthop. 2016 Apr;40(4):653-8. doi: 10.1007/s00264-015-2911-7. Epub 2015 Jul 30.
    • Graser S, Mentrup B, Schneider D, Klein-Hitpass L, Jakob F, Hofmann C. Overexpression of tissue-nonspecific alkaline phosphatase increases the expression of neurogenic differentiation markers in the human SH-SY5Y neuroblastoma cell line. Bone. 2015 Oct;79:150-61. doi: 10.1016/j.bone.2015.05.033. Epub 2015 May 29.

    • Liedert A, Röntgen V, Schinke T, Benisch P, Ebert R, Jakob F, Klein-Hitpass L, Lennerz JK, Amling M, Ignatius A. Osteoblast-Specific Krm2 Overexpression and Lrp5 Deficiency Have Different Effects on Fracture Healing in Mice. PLoS One. 2014 Jul 25;9(7):e103250. doi: 10.1371/journal.pone.0103250.
    • Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet. 2014 Oct;22(10):1160-4. doi: 10.1038/ejhg.2014.10. Epub 2014 Feb 26.
    • Hofmann C, Wurm M, Schwarz T, Neubauer H, Beer M, Girschick H, Morbach H. A standardized clinical and radiological follow-up of patients with chronic non-bacterial osteomyelitis treated with pamidronate. Clin Exp Rheumatol. 2014 Jul-Aug;32(4):604-9. Epub 2014 Jul 23.

    • Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M. Clinical utility gene card for: Hypophosphatasia – update 2013. Eur J Hum Genet (2013) doi: 10.1038/ejhg.2013.177.
    • Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome. Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.
    • Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Berg F, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. Bone (2013) 55(1):150-7.

    • Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7.
    • Morbach H, Schneider P, Schwarz T, Hofmann C, Raab P, Neubauer H, Düren C, Beer M, Girschick HJ. Comparison of magnetic resonance imaging and 99mTechnetium-labelled methylene diphosphonate bone scintigraphy in the initial assessment of chronic non-bacterial osteomyelitis of childhood and adolescents. Clin Exp Rheumatol. 2012 Jul-Aug;30(4):578-82. Epub 2012 Aug 29.
    • Neubauer H, Evangelista L, Morbach H, Girschick H, Prelog M, Köstler H, Hahn D, Beer M. Diffusion-weighted MRI of bone marrow oedema, soft tissue oedema and synovitis in paediatric patients: feasibility and initial experience. Pediatr Rheumatol Online J. 2012 Jul 31;10(1):20. doi: 10.1186/1546-0096-10-20.
    • Hofmann SR, Morbach H, Schwarz T, Rösen-Wolff A, Girschick HJ, Hedrich CM. Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression. Clin Immunol. 2012 Oct;145(1):69-76. doi:10.1016/j.clim.2012.07.012. Epub 2012 Aug 4.

    • Beck C, Girschick H, Morbach H, Schwarz T, Frenkel J, Yimam T, van Gijn M E. Mutation screening of the IL-1 receptor antagonist gene in chronic nonbacterial osteomyelitis of childhood and adolescence. Clin Exp Rheumatol (2011) 29(6):1040-3.
    • Mentrup B, Marschall C, Barvencik F, Amling M, Plendl H, Jakob F, Beck C. Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene. Bone. 2011 Jun 1;48(6):1401-8. Epub 2011 Mar 16.
    • Barvencik F, Beil FT, Gebauer M, Busse B, Koehne T, Seitz S, Zustin J, Pogoda P, Schinke T, Amling M. Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis. Osteoporos Int. 2011 Oct;22(10):2667-75. Epub 2011 Jan 26.
    • Beck C, Girschick HJ, Morbach H, Schwarz T, Yimam T, Frenkel J, van Gijn ME. Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence. Clin Exp Rheumatol. 2011 Nov-Dec;29(6):1040-3. Epub 2011 Dec 22.
    • Hofmann SR, Schwarz T, Möller JC, Morbach H, Schnabel A, Rösen-Wolff A, Girschick HJ, Hedrich CM. Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression. Clin Immunol. 2011 Dec;141(3):317-27. Epub 2011 Aug 30.

    • Morbach H, Dick A, Beck C, Stenzel M, Müller-Hermelink HK, Raab P, Girschick HJ. Association of chronic non-bacterial osteomyelitis with Crohn's disease but not with CARD15 gene variants. Rheumatol Int (2010) 30(5):617-21.
    • Mornet E, Beck C, Bloch-Zupan A, Girschick H, Le Merrer M. Clinical utility gene card for: hypophosphatasia. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.170. Epub 2010 Oct 27.
    • Hofbauer LC, Jakob F, Felsenberg D (2010) Bisphosphonates and atypical femoral fractures. N Engl J Med. 2010 Sep 9;363(11):1084; author reply 1084-5.
    • Beck C, Morbach H, Beer M, Stenzel M, Tappe D, Gattenlöhner S, Hofmann U, Raab P, Girschick HJ. Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment. Arthritis Res Ther. 2010;12(2):R74.
    • Beck C, Morbach H, Wirth C, Beer M, Girschick HJ. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int. 2011 Oct;31(10):1315-20. Epub 2010 Apr 10.

    • Beck C, Morbach H, Richl P, Stenzel M, Girschick HJ. How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int (2008) 29:229-238.
    • Barvencik F, Gebauer M, Schinke T, Amling M. Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP. Clin Orthop Relat Res. 2008 Apr;466(4):990-6. Epub 2008 Jan 25.
    • Morbach H, Stenzel M, Girschick HJ. Bisphosphonate treatment for patients with chronic nonbacterial osteomyelitis. Nat Clin Pract Rheumatol. 2008 Nov;4(11):570-1. Epub 2008 Sep 16.
    • Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009 Feb;25(2):217-23. Epub 2008 Sep 4.

    • Girschick HJ, Haubitz I, Hiort O, Schneider P. Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine. 2007 May;74(3):263-9. Epub 2007 Mar 15.
    • Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P. Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr. 2007 Jan 23;7:3.

    • Valenza G, Burgemeister S, Girschick H, Schoen C, Veihelmann S, Moter A, Haban V, Vogel U, Schlagenhauf U. Analysis of the periodontal microbiota in childhood-type hypophosphatasia. Int J Med Microbiol. 2006 Nov;296(7):493-500. Epub 2006 Jul 27.
    • Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, Shin YS, Seyberth HW. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis. 2006 Jun 28;1:24.

    • Orimo H, Girschick HJ, Goseki-Sone M, Ito M, Oda K, Shimada T. Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. J Bone Miner Res. 2001 Dec;16(12):2313-9.

    • Girschick HJ, Seyberth HW, Huppertz HI. Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone. 1999 Nov;25(5):603-7.
    • Girschick HJ, Schneider P, Kruse K, Huppertz HI. Bone metabolism and bone mineral density in childhood hypophosphatasia. Bone. 1999 Sep;25(3):361-7.

    • Beck C, Morbach H, Richl P, Stenzel M, Girschick HJ. How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int (2008) 29:229-238.
    • Barvencik F, Gebauer M, Schinke T, Amling M. Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP. Clin Orthop Relat Res. 2008 Apr;466(4):990-6. Epub 2008 Jan 25. PubMed PMID: 18219546; PubMed Central PMCID: PMC2504648.
    • Morbach H, Stenzel M, Girschick HJ. Bisphosphonate treatment for patients with chronic nonbacterial osteomyelitis. Nat Clin Pract Rheumatol. 2008 Nov;4(11):570-1. Epub 2008 Sep 16.
    • Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009 Feb;25(2):217-23. Epub 2008 Sep 4.