Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

被引：0
|
作者：
Beth Leiro
Dawn Phillips
Melanie Duiker
Paul Harmatz
Sharon Charles
机构：
[1] Phillips Consulting,
[2] Paradigm Biopharmaceuticals Limited,undefined
[3] UCSF Benioff Children’s Hospital,undefined
来源：
Orphanet Journal of Rare Diseases | / 16卷
关键词：
Clinical Outcome Assessment; Focus Groups; Mucopolysaccharidosis VI; Pain; Patient Reported Outcome Measures; Pediatrics;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] OCCURRENCE OF MULTIPLE DENTIGEROUS CYSTS IN A PATIENT WITH THE MAROTEAUX-LAMY SYNDROME (MUCOPOLYSACCHARIDOSIS, TYPE-VI)
    ROBERTS, MW
    BARTON, NW
    CONSTANTOPOULOS, G
    BUTLER, DP
    DONAHUE, AH
    ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 1984, 58 (02): : 169 - 175
  • [32] Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Development of Clinical and Laboratory Guidelines for Diagnosis
    Harmatz, Paul
    MOLECULAR GENETICS AND METABOLISM, 2012, 105 (02) : S33 - S33
  • [33] Clinical study of 10 Brazilian cases of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
    Kim, CA
    Paula, AC
    Bertola, DR
    Toma, L
    Giugliani, R
    Moreira, MB
    Ferraro, VH
    Albano, LMJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 452 - 452
  • [34] Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease
    Walkley, SU
    Thrall, MA
    Haskins, ME
    Mitchell, TW
    Wenger, DA
    Brown, DE
    Dial, S
    Seim, H
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2005, 31 (05) : 536 - 544
  • [35] Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength
    Cardoso-Santos, Antonio
    Azevedo, Ana C. M. M.
    Fagondes, Simone
    Burin, Maira G.
    Giugliani, Roberto
    Schwartz, Ida V. D.
    JORNAL DE PEDIATRIA, 2008, 84 (02) : 130 - 135
  • [36] CLEARING OF CORNEA AFTER PERFORATING KERATOPLASTY IN MUCOPOLYSACCHARIDOSIS TYPE-VI (MAROTEAUX-LAMY SYNDROME)
    KRIVIT, W
    NEW ENGLAND JOURNAL OF MEDICINE, 1985, 312 (15): : 995 - 995
  • [37] CLEARING OF THE HOST CORNEA FOLLOWING PENETRATING KERATOPLASTY IN PATIENTS WITH THE MAROTEAUX-LAMY SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE-VI-A)
    NAUMANN, GOH
    RUMMELT, V
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 1993, 203 (05) : 351 - 360
  • [38] The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    Harmatz, P.
    Hendriksz, C. J.
    Lampe, C.
    McGill, J. J.
    Parini, R.
    Leao-Teles, E.
    Valayannopoulos, V.
    Cole, Tj.
    Matousek, R.
    Graham, S.
    Guffon, N.
    Quartel, A.
    MOLECULAR GENETICS AND METABOLISM, 2017, 122 (1-2) : 107 - 112
  • [39] MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME): DEVELOPMENT OF CLINICAL AND LABORATORY GUIDELINES FOR DIAGNOSIS
    Harmatz, P.
    D'Almeida, V
    Eng, C.
    Fietz, M.
    Burin, M.
    Hendriksz, C.
    Hwu, P.
    Ketteridge, D.
    Lukacs, Z.
    Mendelsohn, N. J.
    Pasquali, M.
    Schenone, A.
    Schoonderwoerd, K.
    Winchester, B.
    Wood, T.
    Giugliani, R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S211 - S211
  • [40] METABOLIC DEFECT IN MUCOPOLYSACCHARIDOSIS-VI (MAROTEAUX-LAMY DISEASE)
    CANTZ, M
    SPRANGER, J
    OBRIEN, JF
    KLINISCHE WOCHENSCHRIFT, 1977, 55 (02): : 86 - 86
12345