Search Results - "rare diseases"

Caplacizumab as an emerging treatment option for acquired thrombotic thrombocytopenic purpura by Elverdi T, Eskazan AE

Connect to this object online.

Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia by Celia Djayet, Dominique Bremond-Gignac, Justine Touchard, Philippe-Henri Secretan, Fabrice Vidal, Matthieu P. Robert, Alejandra Daruich, Salvatore Cisternino, Joël Schlatter

Connect to this object online.

Case Report: Mutation in TNNI3(c. 544G>A): a novel likely pathogenic mechanism of neonatal dilated cardiomyopathy by Xianhong Li, Liying Dai, Jian Zhang, Jian Zhang

Connect to this object online.

Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report by Sung Eun Kim, Na Yeong Lee, Won Kyoung Cho, Jisook Yim, Jae Wook Lee, Myungshin Kim, Jae Hee Chung, Min Ho Jung, Byung-Kyu Suh, Moon Bae Ahn

Connect to this object online.

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment by Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese, Enza Mozzillo

Connect to this object online.

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy by Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert

Connect to this object online.

Case report: Ten cases of acquired idiopathic generalized anhidrosis treated with oral pilocarpine by Hanako Miyahara, Noriko Kubota, Mari Okune, Yoshiyuki Ishii, Naoko Okiyama, Toshifumi Nomura, Junichi Furuta

Connect to this object online.

Impact of kinase activating and inactivating patient mutations on binary PKA interactions by Ruth eRöck, Johanna Elisabeth Mayrhofer, Verena eBachmann, Eduard eStefan

Connect to this object online.

Useful diagnostic histogenetic features of ectopic odontogenic ghost cell tumours by Yuri Noda, Chisato Ohe, Mitsuaki Ishida, Kimiaki Okano, Kaori Sando, Naoya Hada, Yusuke Ebisu, Takuo Fujisawa, Masao Yagi, Hiroshi Iwai, Koji Tsuta

Connect to this object online.

Gelatinolytic activity in gingival crevicular fluid and saliva of growing patients with Marfan syndrome: a case-control study by Giuseppina Laganà, Giovanni Francesco Fasciglione, Andrea Biondi, Massimiliano Coletta, Giovanni Ruvolo, Paola Cozza

Connect to this object online.

Fetal klippel-Trenaunay-Weber syndrome: Antenatal diagnosis and postnatal management by Neeta Singh, Ankur Mandelia, Neha Nigam, Sangeeta Yadav, Mandakini Pradhan

Connect to this object online.

Therapy of an incomplete spinal cord injury by intrathecal injection of EPO and subcutaneous injection of EPO, vitamin C and G-CSF by Bader A, Reinhardt M, Beuthe A, Röhl K, Giri S

Connect to this object online.

ISOINMUNIZACIÓN ANTIKELL: MANEJO CLÍNICO DE 26 CASOS by Onica Armijo S, María de la Calle F, Elena Martin B, Roberto Rodríguez G, Mar González A, Francisco Herrero de L, Ana Rodríguez De la R, Antonio González G

Connect to this object online.

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans by Alexander T. Young, Kien N. Ly, Callum Wilson, Klaus Lehnert, Russell G. Snell, Suzanne J. Reid, Jessie C. Jacobsen

Connect to this object online.

Endocarditis in a Prosthetic Aortic Valve: A Case Report and Literature Review by Romina Maria Rösch MD, Katja Buschmann MD, Lena Brendel MD, Thomas Schwanz MD, Christian-Friedrich Vahl MD, PhD

Connect to this object online.

Male Breast Cancer: Clinicopathological, Immunohistochemical and Radiological Study by Bermal HASBAY, Filiz AKA BOLAT, Hüseyin Özgür AYTAÇ, Murat KUŞ, Ayşin POURBAGHER

Connect to this object online.

Nationwide Awareness Campaign and Call for Dental Screening for Hereditary Hemorrhagic Telangiectasia in Germany by Urban W. Geisthoff, Frank Hölzle, Boris A. Stuck, Joachim Jackowski, Catherine Hand Goetz, Christina Grabowski, Freya Droege

Connect to this object online.

Physician awareness and understanding of hereditary angioedema: A web‐based study in Japan by Atsushi Fukunaga, Miwa Kishimoto, Akinori Oh, Takeshi Akiyama, Ippei Kotera, Yoichi Inoue, Junichi Maehara

Connect to this object online.

Emerging high-level ciprofloxacin-resistant Salmonella enterica serovar typhi haplotype H58 in travelers returning to the Republic of Korea from India. by Eunkyung Shin, Jungsun Park, Hyun Ju Jeong, Ae Kyung Park, Kyoungin Na, Hyerim Lee, Jeong-Hoon Chun, Kyu Jam Hwang, Chul-Joong Kim, Junyoung Kim

Connect to this object online.

Tuberculose perinatal: um diagnóstico a ser considerado by Layla Luiza Silveira, Williane Coelho de Figueiredo Fernandes, Allyne Coelho Marques Monteiro, Livia Rocha do Valle, Amanda Rodrigues Soares, Daniela Silveira Barbosa, Deborah Marciano Rodrigues, Isabel Mendes Lima, Larisse Bragança Ribeiro Leal, Luiza Horst Neto, Pollyanna Rafaela de Sena Resende

Connect to this object online.