CLINICAL HETEROGENEITY IN SANFILIPPO DISEASE (MUCOPOLYSACCHARIDOSIS-III) TYPE-D - PRESENTATION OF 2 NEW CASES

被引:27
|
作者
COPPA, GV
GIORGI, PL
FELICI, L
GABRIELLI, O
DONTI, E
BERNASCONI, S
KRESSE, H
PASCHKE, E
MASTROPAOLO, C
机构
[1] UNIV SASSARI,INST PEDIAT NEUROPSYCHIAT,I-07100 SASSARI,ITALY
[2] UNIV PERUGIA,DEPT BIOL,I-06100 PERUGIA,ITALY
[3] UNIV PARMA,DEPT PEDIAT,I-43100 PARMA,ITALY
[4] UNIV MUNSTER,INST PHYSIOL CHEM,D-4400 MUNSTER,FED REP GER
关键词
D O I
10.1007/BF00441662
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:130 / 133
页数:4
相关论文
共 50 条
  • [21] MUCOPOLYSACCHARIDOSIS TYPE-IIIC (SANFILIPPO) - EARLY CLINICAL PRESENTATION IN A LARGE TURKISH PEDIGREE
    SEWELL, AC
    PONTZ, BF
    BENISCHEK, G
    CLINICAL GENETICS, 1988, 34 (02) : 116 - 121
  • [22] CLINICAL AND GENETIC DATA ON 12 NEW CASES OF TYPE-D NIEMANN-PICK DISEASE
    TIBBLES, JA
    WELCH, JP
    PEDIATRIC RESEARCH, 1972, 6 (04) : 364 - &
  • [23] A FLUOROMETRIC ENZYME ASSAY FOR THE DIAGNOSIS OF SANFILIPPO DISEASE TYPE-D (MPS IIID)
    HE, W
    VOZNYI, YV
    BOER, AM
    VANDIGGELEN, OP
    KLEIJER, WJ
    JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (06) : 935 - 941
  • [24] In Vivo Gene Therapy for Mucopolysaccharidosis Type III (Sanfilippo Syndrome): A New Treatment Horizon
    Marco, Sara
    Haurigot, Virginia
    Bosch, Fatima
    HUMAN GENE THERAPY, 2019, 30 (10) : 1211 - 1221
  • [25] Gene expression-targeted isoflavone therapy (GET IT) for mucopolysaccharidosis type III (Sanfilippo disease): A pilot clinical trial
    Wegrzyn, G.
    Jakobkiewicz-Banecka, J.
    Piotrowska, E.
    Malinowska, M.
    Maryniak, A.
    Tylki-Szymanska, A.
    Liberek, A.
    Czartoryska, B.
    Kloska, A.
    Wegrzyn, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 116 - 116
  • [26] MUCOPOLYSACCHARIDOSIS-III-A (SANFILIPPO DISEASE TYPE-A) - HISTOCHEMICAL, ELECTRON MICROSCOPICAL AND BIOCHEMICAL FINDINGS
    CAIN, H
    EGNER, E
    KRESSE, H
    BEITRAGE ZUR PATHOLOGIE, 1977, 160 (01): : 58 - 72
  • [27] Mucopolysaccharidosis Type III (Sanfilippo syndrome): clinical, biochemical and neuroradiological features in seven patients from Brazil
    Lourenco, C. M.
    Simao, G. N.
    Dantas, K. G. F.
    Pina-Neto, J. M.
    Marques, W., Jr.
    INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS, 2010, 48 : S70 - S70
  • [28] Mucopolysaccharidosis type IIID (Sanfilippo syndrome D): Clinical data on 10 new patients and identification of 8 novel mutations
    Valstar, M. J.
    Ruijter, G. J. G.
    Bertoli-Avella, A. M.
    Wessels, M. W.
    de Graaf, B.
    Poorthuis, B. J. H. M.
    van Diggelen, O. P.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 118 - 118
  • [29] MERFF - BIOCHEMICAL HETEROGENEITY UNDER SIMILAR CLINICAL PRESENTATION - 2 NEW CASES
    ANGELINI, C
    MARTINUZZI, A
    MICAGLIO, GF
    VERGANI, L
    CARROZZO, R
    ROSA, M
    BARTOLOMEI, G
    CARBONIN, C
    TOSO, V
    CLINICAL NEUROPATHOLOGY, 1988, 7 (04) : 142 - 142
  • [30] High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study
    de Ruijter, Jessica
    Maas, Mario
    Janssen, Anneloes
    Wijburg, Frits A.
    MOLECULAR GENETICS AND METABOLISM, 2013, 109 (01) : 49 - 53