Schimke immunoosseous dysplasia: defining skeletal features

Autor: Lawrence R. Shoemaker, Jürgen Spranger, Robyn Cairns, Cristina Rusu, Jean Luc André, Barbara Hinkelmann, Beate Schmidt, Bertram F. Pontz, Doris Taha, Helen Fryssira, Guiliana Lama, Thomas Lücke, Jorge M. Saraiva, Stefan Fründ, David Goodman, Knut Helmke, Natasa Stajic, Petra Lamfers, Chantal Loirat, Sabine Sigaudy, Harika Alpay, Radovan Bogdanovic, Yumi Asakura, Silvia Majore, Kshamta B. Hunter, Dominique Bonneau, Sarah F. Smithson, Christy Mayfield, Cornelius F. Boerkoel, Karlien Cransberg

Publikováno v: European Journal of Pediatrics
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlag

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75061c6bbd7529a743f53f8089870c9d
https://doi.org/10.1007/s00431-009-1115-9

Fabry disease: Case report with emphasis on enzyme replacement therapy and possible future therapeutic options

Autor: Matthias Möhrenschlager, Verena Henkel, Theodor Podskarbi, Johannes Ring, Ines Lanzl, Bertram F. Pontz

Publikováno v: JDDG. 5:594-597

A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8b37612cb71ad762f9a426d1554692
https://doi.org/10.1111/j.1610-0387.2007.06334.x

The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients

Autor: Bertram F. Pontz, I Degen, C F Poets, H Stöss, A C Sewell

Publikováno v: American Journal of Medical Genetics. 63:203-208

N-acetylneuraminic acid (sialic acid) storage disease is a rare autosomal recessive lysosomal disorder. Clinically two major forms exist, an infantile type with severe progression leading to early death, and a milder form (Salla disease) with a protr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc3ee38b8b8f165f9548b8245766058a
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<203::aid-ajmg36>3.0.co

The influence of ibandronate treatment on bone density and biochemical bone markers in patients with osteogenesis imperfecta

Autor: Bertram F. Pontz, Petra Wolf, Falk Mittag, Ingmar Ipach, Torsten Kluba

Publikováno v: Orthopedic Reviews
Orthopedic Reviews, Vol 4, Iss 3, Pp e29-e29 (2012)

Osteogenesis imperfecta (OI) is characterized by different signs including increased bone fragility, short stature, blue sclera, abnormal tooth growth and often secondary immobility. No curative therapy has been found for this rare disease up to now,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7ccf0a51d50630713dcde1dd6ba053
https://doi.org/10.4081/or.2012.e29

Schimke immunoosseous dysplasia: Suggestions of genetic diversity

Autor: Dominique Bonneau, Asbjørg Stray-Pedersen, Nathalie Biebuyck-Gouge, Georges Deschênes, Nihal Özdemir, Barbara Hinkelmann, Sandra Cockfield, Stavroula Psoni, Guiliana Lama, David V. Milford, Maria Kanariou, Helen Fryssira, Anja Stein, Lawrence R. Shoemaker, Silvia Majore, Sarah F. Smithson, Natasa Stajic, Isabel Cordeiro, Onur Sakallioglu, Belde Kasap, Helen Georgaki, Beate Schmidt, Valérie Cormier-Daire, Newton A C S Wong, Bertram F. Pontz, Radovan Bogdanovic, Flora Sotsiou, Encarna Guillén-Navarro, Doris Taha, Cornelius F. Boerkoel, Graham Smith, Sara Sebnem Kilic, Kunho Choi, Stefan Fründ, Karel Cutka, J. Marietta Clewing, Shu Lou, Petra Lamfers, Karlien Cransberg, Emily A. Sloan, Pierre Cochat, Yumi Asakura, Chantal Loirat, Jochen H. H. Ehrich, Denis Morin, Jane Tizard, Herbert Reichenbach, David Goodman, Michel Tsimaratos, Cristina Rusu, Laure Collard, Harika Alpay, Yan Huang, Jorge M. Saraiva, Sabine Sigaudy, Willem Proesmans, Thomas Lücke, Sophie Taque, Jean Luc André, Caterina Cancrini, Silke Reif

Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiplayseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a509839dac6bcb390f642383f690409f
https://avesis.deu.edu.tr/publication/details/da3be966-7ee9-4d6f-a09b-18e79d6dbac2/oai