Literaturhinweise: L - P
Lee-Chen GJ, Lin SP, Chen IS, Chang JH, Yang CW, Chin YW (2002)
Mucopolysaccharidosis type I: Identification and characterization of mutations
affecting alpha-L-iduronidase activity. J Formos Med Assoc 101:425-428.
Lee-Chen GJ, Lin SP, Ko MH, Chuang CK, Chen CP, Lee HH, Cheng SC, Shen CH,
Tseng KL, Li CL (2002)
Identification and characterization of mutations underlying Sanfilippo syndrome
type A (mucopolysaccharidosis type IIIA). Clin Genet 61:192-197.
Lee-Chen GJ, Lin SP, Lin SZ, Chuang CK, Hsiao KT, Huang CF, Lien WC (2002)
Identification and characterisation of mutations underlying Sanfilippo syndrome
type B (mucopolysaccharidosis type IIIB). J Med Genet 39:E3.
Li HH, Zhao HZ, Neufeld EF, Cai Y, Gomez-Pinilla F (2002)
Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo
syndrome type B. J Neurosci Res 69:30-38.
Liu S, Li L, Fu J, Zhong C, Lu G (2002)
[The detection of the frequent mutations of iduronate-2-sulphatase gene
in mucopolysaccharidosis type II patients in Chinese]. Zhonghua Yi Xue Yi
Chuan Xue Za Zhi 19:243-245.
Malm G, Bondeson ML, von Dobeln U, Mansson JE (2002)
[Mucopolysaccharidoses. New therapeutic possibilities increase the need
of early diagnosis]. Lakartidningen 99:1804-1809.
Mandelli J, Wajner A, Pires R, Giugliani R, Coelho JC (2002)
Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the
plasma of normal individuals and heterozygotes for MPS I. Clin Chim Acta
318:83-89.
Mandelli J, Wajner A, Pires RF, Giugliani R, Coelho JC (2002)
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical
characteristics of leukocyte alpha-L-iduronidase. Arch Med Res 33:20-24.
Meertens L, Zhao Y, Rosic-Kablar S, Li L, Chan K, Dobson H, Gartley C, Lutzko
C, Hopwood J, Kohn D, Kruth S, Hough MR, Dube ID (2002)
In Utero Injection of alpha-L-Iduronidase-Carrying Retrovirus in Canine
Mucopolysaccharidosis Type I: Infection of Multiple Tissues and Neonatal
Gene Expression. Hum Gene Ther 13:1809-1820.
Monroy MA, Ross FP, Teitelbaum SL, Sands MS (2002)
Abnormal osteoclast morphology and bone remodeling in a murine model of
a lysosomal storage disease. Bone 30:352-359.
Musharbash A (2002)
Carpal tunnel syndrome in a 28-month-old child. Pediatr Neurosurg 37:32-34.
Ohlemiller KK, Hennig AK, Lett JM, Heidbreder AF, Sands MS (2002) Inner
ear pathology in the mucopolysaccharidosis VII mouse. Hear Res 169:69- 84.
Orliaguet O, Pepin JL, Veale D, Kelkel E, Pinel N, Levy P (1999)
Hunter's syndrome and associated sleep apnoea cured by CPAP and surgery.
Eur Respir J 13:1195-1197.
Passini MA, Lee EB, Heuer GG, Wolfe JH (2002)
Distribution of a lysosomal enzyme in the adult brain by axonal transport
and by cells of the rostral migratory stream. J Neurosci 22:6437-6446.
Pienkowski C, Gayrard-Cros M (2002)
[Etiologic diagnosis and behaviour when confronted with abnormal hair growth
in a child]. Ann Dermatol Venereol 129:817-820.
Ponder KP, Melniczek JR, Xu L, Weil MA, O'Malley TM, O'Donnell PA, Knox
VW, Aguirre GD, Mazrier H, Ellinwood NM, Sleeper M, Maguire AM, Volk SW,
Mango RL, Zweigle J, Wolfe JH, Haskins ME (2002)
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis
VII dogs. Proc Natl Acad Sci U S A 99:13102-13107.