SANFILIPPO SYNDROME TYPE-D

被引：16
|
作者：
KAPLAN, P
WOLFE, LS
机构：
[1] MCGILL UNIV, MONTREAL CHILDRENS HOSP, RES INST, MONTREAL H3H 1P3, QUEBEC, CANADA
[2] MONTREAL NEUROL INST & HOSP, DONNER LAB EXPTL NEUROCHEM, MONTREAL H3A 2B4, QUEBEC, CANADA
来源：
JOURNAL OF PEDIATRICS | 1987年 / 110卷 / 02期
关键词：
D O I：
10.1016/S0022-3476(87)80171-3
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：267 / 271
页数：5
相关论文
共 50 条
  • [1] SANFILIPPO SYNDROME TYPE-D IN 2 ADOLESCENT SISTERS
    SICILIANO, L
    FIUMARA, A
    PAVONE, L
    FREEMAN, C
    ROBERTSON, D
    MORRIS, CP
    HOPWOOD, JJ
    DINATALE, P
    MUSUMECI, S
    HORWITZ, AL
    JOURNAL OF MEDICAL GENETICS, 1991, 28 (06) : 402 - 405
  • [2] SANFILIPPO SYNDROME, TYPE-D - A SPECTROPHOTOMETRIC ASSAY WITH PRENATAL DIAGNOSTIC POTENTIAL
    NOWAKOWSKI, RW
    THOMPSON, JN
    TAYLOR, KB
    PEDIATRIC RESEARCH, 1989, 26 (05) : 462 - 466
  • [3] SANFILIPPO TYPE-D PRESENTING WITH ACQUIRED LANGUAGE DISORDER BUT WITHOUT FEATURES OF MUCOPOLYSACCHARIDOSIS
    OZAND, PT
    THOMPSON, JN
    GASCON, GG
    SARVEPALLI, SB
    RAHBEENI, Z
    NESTER, MJ
    BRISMAR, J
    JOURNAL OF CHILD NEUROLOGY, 1994, 9 (04) : 408 - 411
  • [4] 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
  • [5] DEFICIT OF N-ACETYLGLUCOSAMINE-6-SULFATE SULFATASES - NEW CASE OF TYPE-D SANFILIPPO SYNDROME (MUCOPOLYSACCHARIDOSIS-IIID)
    FELICI, L
    GABRIELLI, O
    FREDDARA, R
    LEONE, L
    COPPA, GV
    GIORGI, PL
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1982, 8 (04): : 580 - 581
  • [6] SANFILIPPO (MUCOPOLYSACCHARIDOSIS-III) TYPE-D WITH MILD MENTAL-RETARDATION - A NEW VARIANT
    COPPA, GV
    GIORGI, PL
    FELICI, L
    GABRIELLI, O
    FREDDARA, R
    LEONE, L
    BERNASCONI, S
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1983, 9 (04): : 405 - 408
  • [7] *ACIDES RIBONUCLEIQUES DE TYPE-D, TYPE-D(B) ET TYPE-D(I) DE QUELQUES LEVURES
    KHOUVINE, Y
    DEROBICHONSZULMAJSTER, H
    BULLETIN DE LA SOCIETE DE CHIMIE BIOLOGIQUE, 1952, 34 (11): : 1056 - 1062
  • [8] CLINICAL HETEROGENEITY IN SANFILIPPO DISEASE (MUCOPOLYSACCHARIDOSIS-III) TYPE-D - PRESENTATION OF 2 NEW CASES
    COPPA, GV
    GIORGI, PL
    FELICI, L
    GABRIELLI, O
    DONTI, E
    BERNASCONI, S
    KRESSE, H
    PASCHKE, E
    MASTROPAOLO, C
    EUROPEAN JOURNAL OF PEDIATRICS, 1983, 140 (02) : 130 - 133
  • [9] SANFILIPPO TYPE-D DISEASE - CLINICAL FINDINGS IN 2 PATIENTS WITH A NEW VARIANT OF MUCOPOLYSACCHARIDOSIS-III
    GATTI, R
    BORRONE, C
    DEVIRGILIS, S
    SANNA, G
    CAO, A
    VONFIGURA, K
    KRESSE, H
    PASCHKE, E
    DURAND, P
    EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (02) : 168 - 171
  • [10] Sanfilippo syndrome type D: Case report of 2 sisters
    Tan, E. S.
    Sillence, D. O.
    Wilcken, B.
    Ault, J. E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 149 - 149
12345