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
  • [21] Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    Harmatz, P
    Whitley, CB
    Waber, L
    Pais, R
    Steiner, R
    Plecko, B
    Kaplan, P
    Simon, J
    Butensky, E
    Hopwood, JJ
    JOURNAL OF PEDIATRICS, 2004, 144 (05): : 574 - 580
  • [22] Evaluation of galsulfase for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    Lourenco, Charles Marques
    Giugliani, Roberto
    EXPERT OPINION ON ORPHAN DRUGS, 2014, 2 (04): : 407 - 417
  • [23] The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI):: A case report
    Alpöz, AR
    Çoker, M
    Çelen, E
    Ersin, NK
    Gökçen, D
    van Diggelenc, OP
    Huijmansc, JGM
    ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 2006, 101 (05): : 632 - 637
  • [24] MAROTEAUX-LAMY MUCOPOLYSACCHARIDOSIS (TYPE-VI) AND ARYLSULFATASE B DEFICIENCY
    DIFERRAN.N
    SINGH, J
    DONNELLY, PV
    GNIOTSZU.J
    FEDERATION PROCEEDINGS, 1974, 33 (05) : 1520 - 1520
  • [25] HIGH PREVALENCE OF MENTAL IMPAIRMENT IN A SERIES OF 6 PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY SYNDROME)
    Valayannopoulos, V.
    Barbier, V.
    Boddaert, N.
    Arnoux, J. B.
    Lemerrer, M.
    de Lonlay, P.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 80 - 80
  • [26] Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
    Pachajoa, Harry
    Armando Rodriguez, Carlos
    COLOMBIA MEDICA, 2014, 45 (02): : 85 - 87
  • [27] Therapy for Mucopolysaccharidosis VI: (Maroteaux-Lamy Syndrome) Present Status and Prospects
    Giugliani, Roberto
    Herber, Silvani
    de Camargo Pinto, Louise Lapagesse
    Baldo, Guitherme
    PEDIATRIC ENDOCRINOLOGY REVIEWS PER, 2014, 12 : 152 - 158
  • [28] HYDROCEPHALUS AND PAPILLEDEMA IN MAROTEAUX-LAMY SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE 6
    GOLDBERG, MF
    SCOTT, CI
    MCKUSICK, VA
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1970, 69 (06) : 969 - +
  • [29] Teaching NeuroImages: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in a previously undiagnosed infant
    Kwong, Yune
    Jaspan, Tim
    NEUROLOGY, 2012, 78 (08) : E53 - E53
  • [30] Macrophage Involvement in Mitral Valve Pathology in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)
    Brands, Marion
    Roelants, Jorine
    de Krijger, Ronald
    Bogers, Ad
    Reuser, Arnold
    van der Ploeg, Ans
    Helbing, Wim
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (10) : 2550 - 2553
12345