نتایج جستجو برای: shwachman

تعداد نتایج: 1492  

2007
H. H. VAN GELDEREN L. J. DOOREN

The determination of the total content of free a-amino acids in urine has become routine in paediatric practice in numerous diseases. Interest in aminoaciduria has greatly increased since it became known that many congenital metabolic disorders are accompanied by an increased excretion of free oc-amino acids in the urine (Paine, 1960; Woolf, 1961). The excretion of free a-amino-N is usually exp...

Journal: :Haematologica 2012
Jean Donadieu Odile Fenneteau Blandine Beaupain Sandrine Beaufils Florence Bellanger Nizar Mahlaoui Anne Lambilliotte Nathalie Aladjidi Yves Bertrand Valérie Mialou Christine Perot Gérard Michel Fanny Fouyssac Catherine Paillard Virginie Gandemer Patrick Boutard Jacques Schmitz Alain Morali Thierry Leblanc Christine Bellanné-Chantelot

BACKGROUND Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. DESIGN AND METHODS One hundred and two patient...

Journal: :Haematologica 2015
Blanche P Alter Neelam Giri Sharon A Savage Philip S Rosenberg

Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes. We compared telomere length in patients with Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome with telomere length in dyskeratosis congenita. Te...

Journal: :Journal of Pediatric Gastroenterology & Nutrition 2019

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :journal of comprehensive pediatrics 0
brenda may morrow department of pediatric medicine, university of cape town, cape town, south africa; department of pediatric medicine, university of cape town, cape town, south africa. tel: +27216585074, fax: +27216891287

Journal: :Haematologica 2008
Piya Rujkijyanont Ken-Ichiro Watanabe Chhaya Ambekar Hanming Wang Aaron Schimmer Joseph Beyene Yigal Dror

BACKGROUND Shwachman-Diamond syndrome is an inherited multisystem disorder characterized by bone marrow and pancreatic dysfunction as well as metaphyseal dysostosis. Ninety percent of the patients have mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS). The relationship between SBDS and cell survival is unknown. In this study we investigated whether deficiency of the SBDS protein ca...

Journal: :Archives of Disease in Childhood 2006

Journal: :The Journal of clinical investigation 2017
Raphael Carapito Martina Konantz Catherine Paillard Zhichao Miao Angélique Pichot Magalie S Leduc Yaping Yang Katie L Bergstrom Donald H Mahoney Deborah L Shardy Ghada Alsaleh Lydie Naegely Aline Kolmer Nicodème Paul Antoine Hanauer Véronique Rolli Joëlle S Müller Elisa Alghisi Loïc Sauteur Cécile Macquin Aurore Morlon Consuelo Sebastia Sancho Patrizia Amati-Bonneau Vincent Procaccio Anne-Laure Mosca-Boidron Nathalie Marle Naël Osmani Olivier Lefebvre Jacky G Goetz Sule Unal Nurten A Akarsu Mirjana Radosavljevic Marie-Pierre Chenard Fanny Rialland Audrey Grain Marie-Christine Béné Marion Eveillard Marie Vincent Julien Guy Laurence Faivre Christel Thauvin-Robinet Julien Thevenon Kasiani Myers Mark D Fleming Akiko Shimamura Elodie Bottollier-Lemallaz Eric Westhof Claudia Lengerke Bertrand Isidor Seiamak Bahram

Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-nega...

Journal: :Archives of disease in childhood 1988
H P Van Bever P L Gigase L S De Clerck C H Bridts H Franckx W J Stevens

Serum samples from 57 patients with cystic fibrosis were tested for the presence of IgG, IgA, IgM, IgE, and circulating immune complexes containing IgG, IgA, and IgM. Titres of class specific antibodies to Pseudomonas aeruginosa, and class specific antibodies to Ps aeruginosa in circulating immune complexes, were also measured. According to the Shwachman score the patients were divided into thr...

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