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7 in total

1. Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Authors: G Millat; C Marçais; C Tomasetto; K Chikh; A H Fensom; K Harzer; D A Wenger; K Ohno; M T Vanier
Journal: Am J Hum Genet Date: 2001-05-01 Impact factor: 11.025

Review 2. Progress in investigations of sphingolipidoses.

Authors: M Adachi; L Schneck; B W Volk
Journal: Acta Neuropathol Date: 1978-08-07 Impact factor: 17.088

3. Late Niemann-Pick disease with neurovisceral storage: a classification problem.

Authors: J McFarlane; L Murray; K Bradbury; P N Cowen
Journal: J Clin Pathol Date: 1988-06 Impact factor: 3.411

Review 4. Some aspects of the cellular biochemistry of lysosomal and related glycosidases.

Authors: O Touster
Journal: Mol Cell Biochem Date: 1973-12-15 Impact factor: 3.396

Review 5. Inborn errors of metabolism: principles and their applications.

Authors: L Pinksy
Journal: Can Med Assoc J Date: 1972-03-18 Impact factor: 8.262

6. Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.

Authors: D A Wenger; M Sattler; W Hiatt
Journal: Proc Natl Acad Sci U S A Date: 1974-03 Impact factor: 11.205

Review 7. Niemann-Pick disease type C: an update.

Authors: M T Vanier; P Pentchev; C Rodriguez-Lafrasse; R Rousson
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

7 in total