Literature DB >> 14479383

[Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)].

C NEZELOF, M WATCHI.   

Abstract

Entities:  

Keywords:  FATTY TUMOR; PANCREAS/neoplasms

Mesh:

Year:  1961        PMID: 14479383

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


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  12 in total

1.  Congenital pancreatic hypoplasia with neutropenia and skeletal abnormalities.

Authors:  J P McCollum; D P Muller; J T Harries
Journal:  Proc R Soc Med       Date:  1975-05

Review 2.  Shwachman-Diamond syndrome: UK perspective.

Authors:  G W Hall; P Dale; J A Dodge
Journal:  Arch Dis Child       Date:  2006-06       Impact factor: 3.791

3.  Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test.

Authors:  S M N Brown; R Buchdahl
Journal:  J R Soc Med       Date:  2008-07       Impact factor: 5.344

4.  A case of Shwachman syndrome with increased spontaneous chromosome breakage.

Authors:  H Tada; T Ri; H Yoshida; K Ishimoto; M Kaneko; Y Yamashiro; T Shinohara
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

5.  Two brothers with congenital pancreatic exocrine insufficiency, neutropenia and dysgammaglobulinaemia.

Authors:  W F Doe
Journal:  Proc R Soc Med       Date:  1973-11

6.  Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia.

Authors:  E M Pringle; W F Young; E M Haworth
Journal:  Proc R Soc Med       Date:  1968-08

Review 7.  Congenital neutropenia: diagnosis, molecular bases and patient management.

Authors:  Jean Donadieu; Odile Fenneteau; Blandine Beaupain; Nizar Mahlaoui; Christine Bellanné Chantelot
Journal:  Orphanet J Rare Dis       Date:  2011-05-19       Impact factor: 4.123

8.  Shwachman's syndrome. A review of 21 cases.

Authors:  P J Aggett; N P Cavanagh; D J Matthew; J R Pincott; J Sutcliffe; J T Harries
Journal:  Arch Dis Child       Date:  1980-05       Impact factor: 3.791

9.  Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Authors:  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
Journal:  J Clin Invest       Date:  2017-10-03       Impact factor: 14.808

10.  Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

Authors:  Heidi Schaballie; Marleen Renard; Christiane Vermylen; Isabelle Scheers; Nicole Revencu; Luc Regal; David Cassiman; Lieve Sevenants; Ilse Hoffman; Anniek Corveleyn; Victoria Bordon; Filomeen Haerynck; Karel Allegaert; Kris De Boeck; Tania Roskams; Nancy Boeckx; Xavier Bossuyt; Isabelle Meyts
Journal:  Eur J Pediatr       Date:  2013-01-12       Impact factor: 3.860

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