Shwachman syndrome

2011 ◽  
Keyword(s):  
Shwachman Syndrome

scholarly journals Steatorrhea and Pancreatic Insufficiency in Shwachman Syndrome

1982 ◽  
Vol 83 (1) ◽  
pp. 22-27 ◽  
Author(s):  
Richard E. Hill ◽  
Peter R. Durie ◽  
Kevin J. Gaskin ◽  
Geoffrey P. Davidson ◽  
Gordon G. Forstner
Keyword(s):  
Pancreatic Insufficiency ◽  
Shwachman Syndrome

Shwachman Syndrome in a Preterm Newborn Associated With Transient Diabetes Mellitus

2002 ◽  
Vol 34 (2) ◽  
pp. 219-223 ◽  
Author(s):  
Luca Filippi ◽  
Michele Tronchin ◽  
Marco Pezzati ◽  
Gianna Chiti ◽  
Carlo Dani ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Preterm Newborn ◽  
Shwachman Syndrome

Shwachman Syndrome: A Case Report

1992 ◽  
Vol 9 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Patricia Mortureux ◽  
Alain Taïeb ◽  
Jean-Etienne Surlève Bazeille ◽  
Jean Pierre Hehunstre ◽  
Jean Maleville
Keyword(s):  
Case Report ◽  
Shwachman Syndrome

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene

1999 ◽  
Vol 55 (6) ◽  
pp. 466-472 ◽  
Author(s):  
Shiro Ikegawa ◽  
Mitsuo Masuno ◽  
Yoshiharu Kumano ◽  
Akihiko Okawa ◽  
Minoru Isomura ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Translocation Breakpoints ◽  
Shwachman Syndrome

Increased whole blood chemiluminescence in patients with Shwachman syndrome: therapy trial with thiamine and α-tocopherol

1991 ◽  
Vol 150 (3) ◽  
pp. 173-178 ◽  
Author(s):  
M. Ristola ◽  
E. Savilahti ◽  
M. Leirisalo-Repo ◽  
H. Repo
Keyword(s):  
Whole Blood ◽  
Therapy Trial ◽  
Shwachman Syndrome

Shwachman Syndrome

1993 ◽  
Vol 17 (3) ◽  
pp. 474-476 ◽  
Author(s):  
Ernst P. Bom ◽  
Frank M. van der Sande ◽  
Richenel T. O. Tjon A. Tham ◽  
Harry F. P. Hillen
Keyword(s):  
Shwachman Syndrome

Orthopaedic features of Shwachman syndrome. A report of two cases.

1994 ◽  
Vol 76 (2) ◽  
pp. 278-282 ◽  
Author(s):  
S Dhar ◽  
J M Anderton
Keyword(s):  
Shwachman Syndrome

scholarly journals The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

Leukemia ◽  
2009 ◽  
Vol 23 (4) ◽  
pp. 708-711 ◽  
Author(s):  
A Minelli ◽  
E Maserati ◽  
E Nicolis ◽  
M Zecca ◽  
L Sainati ◽  
...  
Keyword(s):  
Myeloid Malignancies ◽  
Shwachman Syndrome

Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression

1996 ◽  
Vol 111 (6) ◽  
pp. 1593-1602 ◽  
Author(s):  
DR Mack ◽  
GG Forstner ◽  
M Wilschanski ◽  
MH Freedman ◽  
PR Durie
Keyword(s):  
Phenotypic Expression ◽  
Pancreatic Dysfunction ◽  
Shwachman Syndrome
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