An adult with a non-neuronopathic form of Niemann-Pick C disease

被引：17

作者：

Fensom, AH ^{[1
]}

Grant, AR

Steinberg, SJ

Ward, CP

Lake, BD

Logan, EC

Hulman, G

机构：

[1] UMDS, Guys Hosp, Div Med & Mol Genet, London, England

[2] Great Ormond St Hosp Children, Dept Histopathol, London, England

[3] Kings Mill Ctr Hlth Care, Dept Histopathol, Sutton In Ashfield, Notts, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 01期

关键词：

D O I：

10.1023/A:1005463718823

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：84 / 86

页数：3

共 9 条

[1] Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [J].

Carstea, ED ;

Morris, JA ;

Coleman, KG ;

Loftus, SK ;

Zhang, D ;

Cummings, C ;

Gu, J ;

Rosenfeld, MA ;

Pavan, WJ ;

Krizman, DB ;

Nagle, J ;

Polymeropoulos, MH ;

Sturley, SL ;

Ioannou, YA ;

Higgins, ME ;

Comly, M ;

Cooney, A ;

Brown, A ;

Kaneski, CR ;

BlanchetteMackie, EJ ;

Dwyer, NK ;

Neufeld, EB ;

Chang, TY ;

Liscum, L ;

Strauss, JF ;

Ohno, K ;

Zeigler, M ;

Carmi, R ;

Sokol, J ;

Markie, D ;

ONeill, RR ;

vanDiggelen, OP ;

Elleder, M ;

Patterson, MC ;

Brady, RO ;

Vanier, MT ;

Pentchev, PG ;

Tagle, DA .

SCIENCE, 1997, 277 (5323) :228-231

[2]

Fredrickson DSS, 1972, METABOLIC BASIS INHE, P783

[3]

PENTCHEV PG, 1995, METABOLIC MOL BASES, P2625

[4] COMPLEMENTATION STUDIES IN NIEMANN-PICK DISEASE TYPE-C INDICATE THE EXISTENCE OF A 2ND GROUP [J].

STEINBERG, SJ ;

WARD, CP ;

FENSOM, AH .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (04) :317-320

[5] NIEMANN-PICK DISEASE TYPE-C - AN UPDATE [J].

VANIER, MT ;

PENTCHEV, P ;

RODRIGUEZLAFRASSE, C ;

ROUSSON, R .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (04) :580-595

[6] TYPE-C NIEMANN-PICK DISEASE - SPECTRUM OF PHENOTYPIC VARIATION IN DISRUPTION OF INTRACELLULAR LDL-DERIVED CHOLESTEROL PROCESSING [J].

VANIER, MT ;

RODRIGUEZLAFRASSE, C ;

ROUSSON, R ;

GAZZAH, N ;

JUGE, MC ;

PENTCHEV, PG ;

REVOL, A ;

LOUISOT, P .

BIOCHIMICA ET BIOPHYSICA ACTA, 1991, 1096 (04) :328-337

[7] TYPE-C NIEMANN-PICK DISEASE - BIOCHEMICAL ASPECTS AND PHENOTYPIC HETEROGENEITY [J].

VANIER, MT ;

RODRIGUEZLAFRASSE, C ;

ROUSSON, R ;

DUTHEL, S ;

HARZER, K ;

PENTCHEV, PG ;

REVOL, A ;

LOUISOT, P .

DEVELOPMENTAL NEUROSCIENCE, 1991, 13 (4-5) :307-314

[8]

Vanier MT, 1996, AM J HUM GENET, V58, P118

[9]

Vanier MT, 1998, BRAIN PATHOL, V8, P163

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