Abstract
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.
| Original language | English |
|---|---|
| Journal | Neurology |
| Volume | 71 |
| Issue number | 23 Suppl 2 |
| DOIs | |
| Publication status | Published - Dec 2 2008 |
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ASJC Scopus subject areas
- Clinical Neurology
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Management and treatment of glycogenosis type II. / Bembi, B.; Cerini, E.; Danesino, C.; Donati, M. A.; Gasperini, S.; Morandi, L.; Musumeci, O.; Parenti, G.; Ravaglia, S.; Seidita, F.; Toscano, A.; Vianello, A.
In: Neurology, Vol. 71, No. 23 Suppl 2, 02.12.2008.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Management and treatment of glycogenosis type II.
AU - Bembi, B.
AU - Cerini, E.
AU - Danesino, C.
AU - Donati, M. A.
AU - Gasperini, S.
AU - Morandi, L.
AU - Musumeci, O.
AU - Parenti, G.
AU - Ravaglia, S.
AU - Seidita, F.
AU - Toscano, A.
AU - Vianello, A.
PY - 2008/12/2
Y1 - 2008/12/2
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=58149401853&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=58149401853&partnerID=8YFLogxK
U2 - 10.1212/WNL.0b013e31818da93f
DO - 10.1212/WNL.0b013e31818da93f
M3 - Article
C2 - 19047571
AN - SCOPUS:58149401853
VL - 71
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 23 Suppl 2
ER -