142 related articles for article (PubMed ID: 18668002)
1. Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.
Bjurulf B; Spetalen S; Erichsen A; Vanier MT; Strøm EH; Strømme P
Med Sci Monit; 2008 Aug; 14(8):CS71-5. PubMed ID: 18668002
[TBL] [Abstract][Full Text] [Related]
2. A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation.
Yaman A; Eminoğlu FT; Kendirli T; Ödek Ç; Ceylaner S; Kansu A; İnce E; Deda G
J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1163-7. PubMed ID: 26024245
[TBL] [Abstract][Full Text] [Related]
3. Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.
Griese M; Brasch F; Aldana VR; Cabrera MM; Goelnitz U; Ikonen E; Karam BJ; Liebisch G; Linder MD; Lohse P; Meyer W; Schmitz G; Pamir A; Ripper J; Rolfs A; Schams A; Lezana FJ
Clin Genet; 2010 Feb; 77(2):119-30. PubMed ID: 20002450
[TBL] [Abstract][Full Text] [Related]
4. The adult form of Niemann-Pick disease type C.
Sévin M; Lesca G; Baumann N; Millat G; Lyon-Caen O; Vanier MT; Sedel F
Brain; 2007 Jan; 130(Pt 1):120-33. PubMed ID: 17003072
[TBL] [Abstract][Full Text] [Related]
5. Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J; Joseph JJ; Shah K; Muranjan M; Mistri M; Sheth F
BMC Med Genet; 2017 Jan; 18(1):5. PubMed ID: 28095804
[TBL] [Abstract][Full Text] [Related]
6. Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.
Zampieri S; Bianchi E; Cantile C; Saleri R; Bembi B; Dardis A
PLoS One; 2014; 9(11):e112503. PubMed ID: 25396745
[TBL] [Abstract][Full Text] [Related]
7. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L; Chikh K; Freydière E; Honoré R; Vanier MT; Millat G
Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
[TBL] [Abstract][Full Text] [Related]
8. Prenatal revelation of Niemann-Pick disease type C in siblings.
Moreno R; Lardennois C; Drouin-Garraud V; Verspyck E; Marret S; Laquerrière A
Acta Paediatr; 2008 Aug; 97(8):1136-9. PubMed ID: 18554276
[TBL] [Abstract][Full Text] [Related]
9. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K; Rodriguez C; Vey S; Vanier MT; Millat G
Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
[TBL] [Abstract][Full Text] [Related]
10. [Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C; Millat G; Coeslier A; Bourgois B; Fontenoy E; Dobbelaere D; Verot L; Haouari N; Vaillant C; Gottrand F; Bogaert E; Thelliez P; Klosowski S; Djebara A; Bachiri A; Manouvrier S; Vanier MT
Arch Pediatr; 2005 Apr; 12(4):434-7. PubMed ID: 15808435
[TBL] [Abstract][Full Text] [Related]
11. Bronchioalveolar lavage with perfluorochemical liquid during conventional ventilation.
Lindemann R; Rajka T; Henrichsen T; Vinorum OG; de Lange C; Erichsen A; Fugelseth D
Pediatr Crit Care Med; 2007 Sep; 8(5):486-8. PubMed ID: 17693917
[TBL] [Abstract][Full Text] [Related]
12. Lung disease in Niemann-Pick disease.
Guillemot N; Troadec C; de Villemeur TB; Clément A; Fauroux B
Pediatr Pulmonol; 2007 Dec; 42(12):1207-14. PubMed ID: 17969000
[TBL] [Abstract][Full Text] [Related]
13. Early pulmonary involvement in Niemann-Pick type B disease: lung lavage is not useful.
Uyan ZS; Karadağ B; Ersu R; Kiyan G; Kotiloğlu E; Sirvanci S; Ercan F; Dağli T; Karakoç F; Dağli E
Pediatr Pulmonol; 2005 Aug; 40(2):169-72. PubMed ID: 15965955
[TBL] [Abstract][Full Text] [Related]
14. [Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].
Vanier MT
Arch Pediatr; 2010 Jun; 17 Suppl 2():S41-4. PubMed ID: 20620894
[TBL] [Abstract][Full Text] [Related]
15. Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease.
Ikegami M; Dhami R; Schuchman EH
Am J Physiol Lung Cell Mol Physiol; 2003 Mar; 284(3):L518-25. PubMed ID: 12495943
[TBL] [Abstract][Full Text] [Related]
16. Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
Godeiro-Júnior C; Inaoka RJ; Barbosa MR; Silva MR; Aguiar Pde C; Barsottini O
Mov Disord; 2006 Dec; 21(12):2270-2. PubMed ID: 17044092
[No Abstract] [Full Text] [Related]
17. NPC-db, a Niemann-Pick type C disease gene variation database.
Runz H; Dolle D; Schlitter AM; Zschocke J
Hum Mutat; 2008 Mar; 29(3):345-50. PubMed ID: 18081003
[TBL] [Abstract][Full Text] [Related]
18. Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.
Palmeri S; Tarugi P; Sicurelli F; Buccoliero R; Malandrini A; De Santi MM; Marcianò G; Battisti C; Dotti MT; Calandra S; Federico A
Neurol Sci; 2005 Jul; 26(3):171-3. PubMed ID: 16086131
[TBL] [Abstract][Full Text] [Related]
19. [A fatal respiratory form of type C Niemann-Pick disease].
Pin I; Pradines S; Pincemaille O; Frappat P; Brambilla E; Vanier MT; Bost M
Arch Fr Pediatr; 1990 May; 47(5):373-5. PubMed ID: 2369271
[TBL] [Abstract][Full Text] [Related]
20. Pulmonary alveolar lipoproteinosis associated with emphysematous areas.
Deacu M; Tofolean DE; Boşoteanu M; Aşchie M; Bulbuc I
Rom J Morphol Embryol; 2012; 53(1):173-7. PubMed ID: 22395518
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
