Literature DB >> 2589877

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

I K Maconochie1, S Chong, G Mieli-Vergani, B D Lake, A P Mowat.   

Abstract

Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.

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Year:  1989        PMID： 2589877      PMCID： PMC1590103          DOI： 10.1136/adc.64.10_spec_no.1391

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


  2 in total

1.  Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation.

Authors:  J C Gartner; I Bergman; J J Malatack; B J Zitelli; R Jaffe; J B Watkins; B W Shaw; S Iwatsuki; T E Starzl
Journal:  Pediatrics       Date:  1986-01       Impact factor: 7.124

2.  Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

Authors:  M T Vanier; D A Wenger; M E Comly; R Rousson; R O Brady; P G Pentchev
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438
  2 in total
  16 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

2.  Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; G Mandon; J Boué; A Choiset; M F Peyrat; C Dumontel; M C Juge; P G Pentchev
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

Review 3.  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

Review 4.  Liver disease in infancy: a 20 year perspective.

Authors:  G Mieli-Vergani; E R Howard; A P Mowat
Journal:  Gut       Date:  1991-09       Impact factor: 23.059

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

Authors:  D J Manning; W I Price; R G Pearse
Journal:  Arch Dis Child       Date:  1990-03       Impact factor: 3.791

6.  The prognostic factors and the outcome of primary isolated fetal ascites.

Authors:  Satoko Nose; Noriaki Usui; Hideki Soh; Masafumi Kamiyama; Gakuto Tani; Takeshi Kanagawa; Tadashi Kimura; Hitomi Arahori; Keisuke Nose; Akio Kubota; Masahiro Fukuzawa
Journal:  Pediatr Surg Int       Date:  2011-02-05       Impact factor: 1.827

7.  Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

Authors:  G Millat; C Marçais; M A Rafi; T Yamamoto; J A Morris; P G Pentchev; K Ohno; D A Wenger; M T Vanier
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

8.  Niemann-Pick-like liver disease and reduced cholesterol esterification in fibroblasts of two male infants.

Authors:  K Kristjansson; M J Finegold; P G Pentchev; J W Belmont
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

9.  Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

Authors:  M T Vanier; S Duthel; C Rodriguez-Lafrasse; P Pentchev; E D Carstea
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

Review 10.  Niemann-Pick disease type C: an update.

Authors:  M T Vanier; P Pentchev; C Rodriguez-Lafrasse; R Rousson
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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