203 related articles for article (PubMed ID: 1776442)
1. Niemann-Pick disease type B with ocular involvement: report of a case.
Tsai FJ; Peng CT; Tsai CH; Hwu WL; Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1991; 32(3):177-82. PubMed ID: 1776442
[TBL] [Abstract][Full Text] [Related]
2. Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B.
Hammersen G; Oppermann HC; Harms E; Blassmann K; Harzer K
Eur J Pediatr; 1979 Oct; 132(2):77-84. PubMed ID: 499262
[TBL] [Abstract][Full Text] [Related]
3. [Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)].
Harzer K; Ruprecht KW; Seuffer-Schulze D; Jans U
Albrecht Von Graefes Arch Klin Exp Ophthalmol; 1978 May; 206(2):79-88. PubMed ID: 306775
[TBL] [Abstract][Full Text] [Related]
4. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
Mihaylova V; Hantke J; Sinigerska I; Cherninkova S; Raicheva M; Bouwer S; Tincheva R; Khuyomdziev D; Bertranpetit J; Chandler D; Angelicheva D; Kremensky I; Seeman P; Tournev I; Kalaydjieva L
Brain; 2007 Apr; 130(Pt 4):1050-61. PubMed ID: 17360762
[TBL] [Abstract][Full Text] [Related]
5. [Type-B Niemann-Pick disease. Apropos of a case].
Sanjurjo P; González T; Prats J; Bezanilla JL; Chouza M; Villar M
An Esp Pediatr; 1984 May; 20(8):789-91. PubMed ID: 6476625
[TBL] [Abstract][Full Text] [Related]
6. A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
Sperl W; Bart G; Vanier MT; Christomanou H; Baldissera I; Steichen-Gersdorf E; Paschke E
J Inherit Metab Dis; 1994; 17(1):93-103. PubMed ID: 8051942
[TBL] [Abstract][Full Text] [Related]
7. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation.
Sogawa H; Horino K; Nakamura F; Kudoh T; Oyanagi K; Yamanouchi T; Minami R; Nakao T; Watanabe A; Matsuura Y
Eur J Pediatr; 1978 Jul; 128(4):235-40. PubMed ID: 208852
[TBL] [Abstract][Full Text] [Related]
8. Ocular manifestations of Niemann-Pick disease type B.
McGovern MM; Wasserstein MP; Aron A; Desnick RJ; Schuchman EH; Brodie SE
Ophthalmology; 2004 Jul; 111(7):1424-7. PubMed ID: 15234149
[TBL] [Abstract][Full Text] [Related]
9. Clinical and biochemical diagnostics of Niemann-Pick disease.
Maciejko D; Tylki-Szymańska A
Klin Padiatr; 1986; 198(2):103-6. PubMed ID: 3009958
[TBL] [Abstract][Full Text] [Related]
10. Studies on the activation of sphingomyelinase activity in Niemann-Pick type A, B, and C fibroblasts: enzymological differentiation of types A and B.
Poulos A; Ranieri E; Shankaran P; Callahan JW
Pediatr Res; 1984 Nov; 18(11):1088-93. PubMed ID: 6096798
[TBL] [Abstract][Full Text] [Related]
11. Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study.
Viana MB; Leite VH; Giugliani R; Fensom A
Sangre (Barc); 1992 Feb; 37(1):59-67. PubMed ID: 1585241
[TBL] [Abstract][Full Text] [Related]
12. Macula halo syndrome.
Onur İU; Aşula MF; Ekinci C; Mert M
Int Ophthalmol; 2019 Jun; 39(6):1391-1395. PubMed ID: 29845436
[TBL] [Abstract][Full Text] [Related]
13. Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters.
Takada G; Satoh W; Komatsu K; Konn Y; Miura Y; Uesaka Y
Tohoku J Exp Med; 1987 Sep; 153(1):27-36. PubMed ID: 2823414
[TBL] [Abstract][Full Text] [Related]
14. Sphingomyelinase in cultured skin fibroblasts from normal and Niemann-Pick type C patients.
Poulos A; Hudson N; Ranieri E
Clin Genet; 1983 Oct; 24(4):225-33. PubMed ID: 6315279
[TBL] [Abstract][Full Text] [Related]
15. Pulmonary involvement in Niemann-Pick disease: case report and literature review.
Minai OA; Sullivan EJ; Stoller JK
Respir Med; 2000 Dec; 94(12):1241-51. PubMed ID: 11192962
[TBL] [Abstract][Full Text] [Related]
16. [A case of type C Niemann-Pick disease].
Hashimoto K; Koeda T; Matsubara K; Ohta S; Ohno K; Ohmura K
No To Hattatsu; 1990 Jul; 22(4):381-5. PubMed ID: 2400614
[TBL] [Abstract][Full Text] [Related]
17. Types A and B Niemann-Pick disease.
Schuchman EH; Desnick RJ
Mol Genet Metab; 2017; 120(1-2):27-33. PubMed ID: 28164782
[TBL] [Abstract][Full Text] [Related]
18. [Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis].
Pámpols T; Pineda M; Ferreter M; Fernández E
An Esp Pediatr; 1986 Apr; 24(4):250-6. PubMed ID: 3014938
[TBL] [Abstract][Full Text] [Related]
19. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE; de Sonnaville ES; Cassiman D; Linthorst GE; Groener JE; Morava E; Wevers RA; Mannens M; Aerts JM; Meersseman W; Akkerman E; Niezen-Koning KE; Mulder MF; Visser G; Wijburg FA; Lefeber D; Poorthuis BJ
Mol Genet Metab; 2012 Nov; 107(3):526-33. PubMed ID: 22818240
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]