Literature DB >> 2334227

Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

D J Manning, W I Price, R G Pearse.   

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Year:  1990        PMID： 2334227      PMCID： PMC1792262          DOI： 10.1136/adc.65.3.335-e

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  1 in total

1.  Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

Authors:  I K Maconochie; S Chong; G Mieli-Vergani; B D Lake; A P Mowat
Journal:  Arch Dis Child       Date:  1989-10       Impact factor: 3.791
  1 in total
  6 in total

1.  In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.

Authors:  E Colin; M Barth; F Boussion; P Latour; G Piguet-Lacroix; A Guichet; A Ziegler; S Triau; D Loisel; L Sentilhes; D Bonneau
Journal:  JIMD Rep       Date:  2015-11-14

Review 2.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

3.  Spectrum of phenotypic variability in Niemann-Pick type C disease: A cause of delayed diagnosis.

Authors:  C Prasad; C Pushpanathan; R Morris; A Davis; F Dougherty
Journal:  Paediatr Child Health       Date:  1998-09       Impact factor: 2.253

4.  Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Authors:  Mersedeh Rohanizadegan; Sara M Abdo; Anne O'Donnell-Luria; Ivana Mihalek; Peggy Chen; Marilyn Sanders; Kristen Leeman; Megan Cho; Christina Hung; Olaf Bodamer
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

Review 5.  Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Authors:  Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger
Journal:  Orphanet J Rare Dis       Date:  2012-11-08       Impact factor: 4.123

6.  NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.

Authors:  Jorge L Rodriguez-Gil; Dawn E Watkins-Chow; Laura L Baxter; Tadafumi Yokoyama; Patricia M Zerfas; Matthew F Starost; William A Gahl; May Christine V Malicdan; Forbes D Porter; Frances M Platt; William J Pavan
Journal:  J Clin Med       Date:  2019-12-19       Impact factor: 4.241
  6 in total

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