Literature DB >> 12124701

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

Marie T Vanier1.   

Abstract

Prenatal diagnosis of Niemann-Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann-Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance. Copyright 2002 John Wiley & Sons, Ltd.

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Year:  2002        PMID： 12124701     DOI： 10.1002/pd.368

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  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

2.  A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

Authors:  O P van Diggelen; Ya V Voznyi; J L M Keulemans; K Schoonderwoerd; J Ledvinova; E Mengel; M Zschiesche; R Santer; K Harzer
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 3.  Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.

Authors:  Wladimir Mauhin; Raphaël Borie; Florence Dalbies; Claire Douillard; Nathalie Guffon; Christian Lavigne; Olivier Lidove; Anaïs Brassier
Journal:  J Clin Med       Date:  2022-02-10       Impact factor: 4.241

Review 4.  Niemann-Pick disease type C.

Authors:  Marie T Vanier
Journal:  Orphanet J Rare Dis       Date:  2010-06-03       Impact factor: 4.123

Review 5.  Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

Authors:  Margaret M McGovern; Ruzan Avetisyan; Bernd-Jan Sanson; Olivier Lidove
Journal:  Orphanet J Rare Dis       Date:  2017-02-23       Impact factor: 4.123

6.  First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.

Authors:  Liana Ples; Romina-Marina Sima; Florina Nedelea; Marius Moga
Journal:  Front Endocrinol (Lausanne)       Date:  2018-06-06       Impact factor: 5.555
  6 in total

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