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There are 8563931 results for: content related to: Case 1: An infant with heart failure (Discussion and Diagnosis)

  1. Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

    Human Mutation

    Volume 37, Issue 11, November 2016, Pages: 1190–1201, Jacqueline Stella, Insa Buers, Koen van de Wetering, Wolfgang Höhne, Frank Rutsch and Yvonne Nitschke

    Version of Record online : 23 AUG 2016, DOI: 10.1002/humu.23057

  2. Generalized arterial calcification of infancy: Different clinical courses in two affected siblings

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 210–213, Kun-Shan Cheng, Ming-Ren Chen, Nico Ruf, Shuan-Pei Lin and Frank Rutsch

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30800

  3. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

    British Journal of Dermatology

    Volume 166, Issue 5, May 2012, Pages: 1107–1111, Q. Li, W. Schumacher, D. Jablonski, D. Siegel and J. Uitto

    Version of Record online : 4 APR 2012, DOI: 10.1111/j.1365-2133.2012.10811.x

  4. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 118–123, G. Le Boulanger, C. Labrèze, A. Croué, L.J. Schurgers, N. Chassaing, T. Wittkampf, F. Rutsch and L. Martin

    Version of Record online : 23 DEC 2009, DOI: 10.1002/ajmg.a.33162

  5. You have full text access to this OnlineOpen article
    Oral administration of pyrophosphate inhibits connective tissue calcification

    EMBO Molecular Medicine

    Volume 9, Issue 11, November 2017, Pages: 1463–1470, Dóra Dedinszki, Flóra Szeri, Eszter Kozák, Viola Pomozi, Natália Tőkési, Tamás Róbert Mezei, Kinga Merczel, Emmanuel Letavernier, Ellie Tang, Olivier Le Saux, Tamás Arányi, Koen van de Wetering and András Váradi

    Version of Record online : 12 JUL 2017, DOI: 10.15252/emmm.201707532

  6. Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 456–460, Nomazulu Dlamini, Miranda Splitt, Anne Durkan, Ata Siddiqui, Soundrie Padayachee, Sue Hobbins, Frank Rutsch and Elizabeth Wraige

    Version of Record online : 10 FEB 2009, DOI: 10.1002/ajmg.a.32646

  7. Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1308–1311, Carlos R. Ferreira, Shira G. Ziegler, Ashutosh Gupta, Catherine Groden, Kevin S. Hsu and William A. Gahl

    Version of Record online : 9 FEB 2016, DOI: 10.1002/ajmg.a.37574

  8. You have free access to this content
    Novel Inhibitors of Alkaline Phosphatase Suppress Vascular Smooth Muscle Cell Calcification

    Journal of Bone and Mineral Research

    Volume 22, Issue 11, November 2007, Pages: 1700–1710, Sonoko Narisawa, Dympna Harmey, Manisha C Yadav, W Charles O'Neill, Marc F Hoylaerts and Jose Luis Millán

    Version of Record online : 16 JUL 2007, DOI: 10.1359/jbmr.070714

  9. You have free access to this content
    Hip geometry variation is associated with bone mineralization pathway gene variants: The framingham study

    Journal of Bone and Mineral Research

    Volume 25, Issue 7, July 2010, Pages: 1564–1571, Ching-Lung Cheung, Gregory Livshits, Yanhua Zhou, James B Meigs, Jarred B McAteer, Jose C Florez, L Adrienne Cupples, Serkalem Demissie, Douglas P Kiel and David Karasik

    Version of Record online : 14 DEC 2009, DOI: 10.1359/jbmr.091102

  10. You have free access to this content
    New Variants in the Enpp1 and Ptpn6 Genes Cause Low BMD, Crystal-Related Arthropathy, and Vascular Calcification

    Journal of Bone and Mineral Research

    Volume 24, Issue 9, September 2009, Pages: 1552–1564, Philip Babij, Martine Roudier, Tom Graves, Chun-Ya E Han, Mark Chhoa, Chi-Ming Li, Todd Juan, Sean Morony, Mario Grisanti, Xiaodong Li, Longchuan Yu, Denise Dwyer, David J Lloyd, Michael B Bass, William G Richards, Christine Ebeling, Julie Amato and George Carlson

    Version of Record online : 27 APR 2009, DOI: 10.1359/jbmr.090417

  11. You have full text access to this Open Access content
    Npp1 promotes atherosclerosis in ApoE knockout mice

    Journal of Cellular and Molecular Medicine

    Volume 15, Issue 11, November 2011, Pages: 2273–2283, Yvonne Nitschke, Gabriele Weissen-Plenz, Robert Terkeltaub and Frank Rutsch

    Version of Record online : 24 OCT 2011, DOI: 10.1111/j.1582-4934.2011.01327.x

  12. Inhibition of arterial medial calcification and bone mineralization by extracellular nucleotides: The same functional effect mediated by different cellular mechanisms

    Journal of Cellular Physiology

    Volume 233, Issue 4, April 2018, Pages: 3230–3243, Jessal J. Patel, Dongxing Zhu, Britt Opdebeeck, Patrick D'Haese, José L. Millán, Lucie E. Bourne, Caroline P.D. Wheeler-Jones, Timothy R. Arnett, Vicky E. MacRae and Isabel R. Orriss

    Version of Record online : 4 OCT 2017, DOI: 10.1002/jcp.26166

  13. You have free access to this content
    Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

    Journal of Bone and Mineral Research

    Volume 28, Issue 2, February 2013, Pages: 419–430, Jesse E Otero, Gary S Gottesman, William H McAlister, Steven Mumm, Katherine L Madson, Tina Kiffer-Moreira, Campbell Sheen, José Luis Millán, Karen L Ericson and Michael P Whyte

    Version of Record online : 15 JAN 2013, DOI: 10.1002/jbmr.1752

  14. You have free access to this content
    Ablation of Osteopontin Improves the Skeletal Phenotype of Phospho1−/− Mice

    Journal of Bone and Mineral Research

    Volume 29, Issue 11, November 2014, Pages: 2369–2381, Manisha C Yadav, Carmen Huesa, Sonoko Narisawa, Marc F Hoylaerts, Alain Moreau, Colin Farquharson and José Luis Millán

    Version of Record online : 20 OCT 2014, DOI: 10.1002/jbmr.2281

  15. You have full text access to this OnlineOpen article
    Acidosis Is a key regulator of osteoblast ecto-nucleotidase pyrophosphatase/phosphodiesterase 1 (NPP1) expression and activity

    Journal of Cellular Physiology

    Volume 230, Issue 12, December 2015, Pages: 3049–3056, Isabel R. Orriss, Michelle L. Key, Mark O.R. Hajjawi, José L. Millán and Timothy R. Arnett

    Version of Record online : 24 AUG 2015, DOI: 10.1002/jcp.25041

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    Pharmacological inhibition of PHOSPHO1 suppresses vascular smooth muscle cell calcification

    Journal of Bone and Mineral Research

    Volume 28, Issue 1, January 2013, Pages: 81–91, Tina Kiffer-Moreira, Manisha C Yadav, Dongxing Zhu, Sonoko Narisawa, Campbell Sheen, Boguslaw Stec, Nicholas D Cosford, Russell Dahl, Colin Farquharson, Marc F Hoylaerts, Vicky E MacRae and José Luis Millán

    Version of Record online : 18 DEC 2012, DOI: 10.1002/jbmr.1733

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    ATP and arterial calcification

    European Journal of Clinical Investigation

    Volume 43, Issue 4, April 2013, Pages: 405–412, Richard S. Fish, Enriko Klootwijk, Frederick W. K. Tam, Robert Kleta, David C. Wheeler, Robert J. Unwin and Jill Norman

    Version of Record online : 10 FEB 2013, DOI: 10.1111/eci.12055

  18. SPP1 is expressed in corticospinal neurons of the macaque sensorimotor cortex

    Journal of Comparative Neurology

    Volume 518, Issue 13, 1 July 2010, Pages: 2633–2644, Noriyuki Higo, Akira Sato, Tatsuya Yamamoto, Yukio Nishimura, Takao Oishi, Yumi Murata, Hirotaka Onoe, Kimika Yoshino-Saito, Fumiharu Tsuboi, Masahito Takahashi, Tadashi Isa and Toshio Kojima

    Version of Record online : 16 FEB 2010, DOI: 10.1002/cne.22356

  19. Paediatric pseudoxanthoma elasticum with cardiovascular involvement

    British Journal of Dermatology

    Volume 169, Issue 5, November 2013, Pages: 1148–1151, Q. Li, J. Baker, J. Kowalczyk, Q. Jiang, J. Uitto and L. Schachner

    Version of Record online : 31 OCT 2013, DOI: 10.1111/bjd.12462

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    The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

    Human Mutation

    Volume 25, Issue 1, January 2005, Page: 98, Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, Peter Nürnberg and Frank Rutsch

    Version of Record online : 16 DEC 2004, DOI: 10.1002/humu.9297