Management and treatment of glycogenosis type II

被引：41

作者：

Bembi, B. ^{[2
]}

Cerini, E. ^{[3
]}

Danesino, C. ^{[1
]}

Donati, M. A. ^{[4
]}

Gasperini, S. ^{[4
]}

Morandi, L.

Musumeci, O. ^{[5
]}

Parenti, G. ^{[6
,9
]}

Ravaglia, S. ^{[7
]}

Seidita, F.

Toscano, A. ^{[5
]}

Vianello, A. ^{[8
]}

机构：

[1] Univ Pavia, IRCCS San Matteo, I-27100 Pavia, Italy

[2] Univ Hosp Santa Maria Misericordia Udine, Reg Coordinat Ctr Rare Dis, Udine, Italy

[3] Hosp Mantua, Dept Neonatal Pathol, Mantau, Italy

[4] Meyer Childrens Hosp, Metab & Muscular Unit, Florence, Italy

[5] Univ Messina, Dept Neurosci, Messina, Italy

[6] Univ Naples Federico II, Dept Pediat, Naples, Italy

[7] Univ Pavia, Neurol Inst C Mondino, Dept Neurol Sci, I-27100 Pavia, Italy

[8] Univ City Hosp Padova, Resp Pathophysiol Unit, Padua, Italy

[9] Univ Naples Federico II, Telethon Inst Genet & Med, Naples, Italy

来源：

NEUROLOGY | 2008年 / 71卷 / 23期

关键词：

D O I：

10.1212/WNL.0b013e31818da93f

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiologist, pulmonologist, neurologist, neuromuscular specialist, intensivist, orthopedist, respiratory therapist, physical therapist, occupational therapist, otolaryngologist speech therapist, audiologist, genetic counselor, and a metabolic dietician, who, as a team, will be capable of addressing the different manifestations of the condition. Aspects of functional assessment, rehabilitation, nutritional management, care coordination, nursing, genetic counseling, prenatal diagnosis, and screening are discussed in this article. In addition, treatment of glycogenosis type II is reviewed with attention to emerging therapeutic options. NEUROLOGY 2008; 71(Suppl 2): S12-S36

引用

页码：S12 / S36

页数：25

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