32-j�hriger Patient mit pathologischer Humerusfraktur, Splenomegalie und Thrombozytopenie

Autor: E. M. Dürr, Klaus G. Parhofer, Geiss Hc, Pontz Bf

Publikováno v: Der Internist. 45:455-460

We describe the case of a 32-year old male patient who presented with a pathological fracture of his right humerus, splenomegaly and thrombocytopenia, the typical symptoms of Gaucher's disease, a lysosomal storage disease. Diagnosis was confirmed by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::185bd2207a4aa978714d9c62fcfd2b32
https://doi.org/10.1007/s00108-003-1121-3

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Clinical heterogeneity in infantile galactosialidosis

Autor: D. Weitzel, A. C. Sewell, C. Humburg, Pontz Bf

Publikováno v: European Journal of Pediatrics. 146:528-531

A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::023086436985db883665e1b57dcad1a0
https://doi.org/10.1007/bf00441610

Hyperbaric oxygen treatment restores sudden hearing loss in a patient with Fabry disease.

Autor: Frantz MC; Department of Otorhinolaryngology, Head and Neck Surgery, Klinikum rechts der Isar, Munich, Germany. m.frantz@lrz.tum.de, Pontz BF, Arnold W

Publikováno v: ORL; journal for oto-rhino-laryngology and its related specialties [ORL J Otorhinolaryngol Relat Spec] 2008; Vol. 70 (3), pp. 210-3. Date of Electronic Publication: 2008 Apr 08.

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Autor: Clewing JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF

Publikováno v: Human mutation [Hum Mutat] 2007 Mar; Vol. 28 (3), pp. 273-83.