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62. [Progressive myoclonus epilepsy in two siblings and 5 cases with dyssynergia cerebellaris myoclonica in several generations of a kinship, a clinical and genetic study]. Diebold K; Kastner M; Penin H Nervenarzt; 1974 Nov; 45(11):595-601. PubMed ID: 4217888 [No Abstract] [Full Text] [Related]
65. Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period. Hopwood JJ; Muller V; Harrison JR; Carey WF; Elliott H; Robertson EF; Pollard AC Med J Aust; 1982 Mar; 1(6):257-60. PubMed ID: 6806584 [TBL] [Abstract][Full Text] [Related]
66. Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies. Sauer M; Grewal S; Peters C Klin Padiatr; 2004; 216(3):163-8. PubMed ID: 15175961 [TBL] [Abstract][Full Text] [Related]
67. The early laboratory diagnosis of mucopolysaccharidoses. Lorincz AE; Hurst RE; Kolodny EH Ann Clin Lab Sci; 1982; 12(4):258-66. PubMed ID: 6814341 [No Abstract] [Full Text] [Related]
68. [Possible genetic nature of phenotypical differences of mucopolysaccharidosis 1]. Kobrinskiĭ BA Vopr Med Khim; 1982; 28(3):55-7. PubMed ID: 6808766 [No Abstract] [Full Text] [Related]
69. Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria. Haust MD; Gordon BA; Hong R; Choi JH; Langer LO; Spranger J; Opitz JM Am J Med Genet; 1985 Sep; 22(1):1-27. PubMed ID: 2931979 [No Abstract] [Full Text] [Related]
70. [Mucopolysaccharidoses from the view point of mucopolysaccharidoses families--10 years' experiences of the "Austrian Society for Mucopolysaccharidoses"]. Fang-Kircher S; Kraft M Wien Klin Wochenschr; 1996; 108(2):29-32. PubMed ID: 8835429 [TBL] [Abstract][Full Text] [Related]
71. [On the practical possibilities of clinical genetics]. Méhes K; Cholnoky P Orv Hetil; 1967 Dec; 108(53):2518-20. PubMed ID: 4232213 [No Abstract] [Full Text] [Related]
76. Some studies on inherited disease using the techniques of cell culture. Bearn AG Postgrad Med J; 1968 Jan; 44(507):9-12. PubMed ID: 4966366 [No Abstract] [Full Text] [Related]
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79. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. Zhou YA; Li P; Zhang Y; Xiong Q; Li C; Zhao Z; Wang Y; Xiao H Mol Genet Genomic Med; 2020 Jan; 8(1):e1058. PubMed ID: 31758674 [TBL] [Abstract][Full Text] [Related]
80. Cardiac disease in children and young adults with various lysosomal storage diseases: Comparison of echocardiographic and ECG changes among clinical groups. Mueller P; Attenhofer Jost CH; Rohrbach M; Valsangiacomo Buechel ER; Seifert B; Balmer C; Kretschmar O; Baumgartner MR; Weber R Int J Cardiol Heart Vessel; 2013 Mar; 2():1-7. PubMed ID: 29450157 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]