Literature DB >> 3014367

Niemann-Pick disease type C. Skin biopsies in parents.

C Ceuterick, J J Martin, M Foulard.   

Abstract

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Year:  1986        PMID： 3014367

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  5 in total

1.  Metabolic abnormalities in feline Niemann-Pick type C heterozygotes.

Authors:  D E Brown; M A Thrall; S U Walkley; S Wurzelmann; D A Wenger; R W Allison; C A Just
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Nerve biopsy findings in Niemann-Pick type II (NPC)

Authors:  C Ceuterick; J J Martin
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

3.  Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.

Authors:  Klaus Harzer; Stefanie Beck-Wödl; Peter Bauer
Journal:  JIMD Rep       Date:  2013-07-03

4.  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

5.  Clinical and neurophysiological characteristics of heterozygous NPC1 carriers.

Authors:  Alberto Benussi; Maria S Cotelli; Valentina Cantoni; Valeria Bertasi; Marinella Turla; Andrea Dardis; Jessica Biasizzo; Rosa Manenti; Maria Cotelli; Alessandro Padovani; Barbara Borroni
Journal:  JIMD Rep       Date:  2019-06-28
  5 in total

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