Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)

被引：2

作者：

Zapata-Aldana, Eugenio ^{[1
]}

McMillan, Hugh J. ^{[2
]}

Rupar, Tony ^{[3
,4
]}

Brunel-Guitton, Catherine ^{[5
]}

Chakraborty, Pranesh ^{[6
,7
,8
]}

Mitchell, John J. ^{[9
,10
]}

Roth, Johannes ^{[11
]}

Tarnopolsky, Mark A. ^{[12
,13
]}

Turner, Lesley ^{[14
]}

Campbell, Craig ^{[1
]}

机构：

[1] Childrens Hosp, Dept Neurol Paediat, London Hlth Sci Ctr, London, ON, Canada

[2] Univ Ottawa, Childrens Hosp Eastern Ontario, Dept Pediat, Ottawa, ON, Canada

[3] Western Univ, Schulich Sch Med & Dent, Dept Biochem, London, ON, Canada

[4] Western Univ, Schulich Sch Med & Dent, Dept Paediat, London, ON, Canada

[5] Univ Montreal, Dept Pediat, CHU St Justine, Montreal, PQ, Canada

[6] Childrens Hosp Eastern Ontario, Dept Pediat, Metab & Newborn Screening, Ottawa, ON, Canada

[7] Univ Ottawa, Dept Pediat, Ottawa, ON, Canada

[8] Newborn Screening Ontario, Ottawa, ON, Canada

[9] McGill Univ, Dept Pediat, Hlth Ctr, Montreal, PQ, Canada

[10] McGill Univ, Dept Med Genet, Hlth Ctr, Montreal, PQ, Canada

[11] Childrens Hosp Eastern Ontario, Div Pediat Dermatol & Rheumatol, Ottawa, ON, Canada

[12] McMaster Univ, Hamilton Hlth Sci Ctr, Dept Pediat, Div Neuromuscular & Neurometab Disorders, Hamilton, ON, Canada

[13] McMaster Univ, Hamilton Hlth Sci Ctr, Dept Med, Div Neuromuscular & Neurometab Disorders, Hamilton, ON, Canada

[14] Janeway Childrens Hlth & Rehabil Ctr, St John, NF, Canada

来源：

PAEDIATRICS & CHILD HEALTH | 2019年 / 24卷 / 04期

关键词：

D O I：

10.1093/pch/pxy153

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：270 / 271

页数：2

共 4 条

[1]

Campbell C., 2017, INFANTILE LATER ONSE

[2]

Case LE, 2012, AM J MED GENET C, V160C, P69, DOI [10.1002/ajmg.c.31321, 10.1002/ajmc.31321]

[3] Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function [J].

Figueroa-Bonaparte, Sebastian ;

Segovia, Sonia ;

Llauger, Jaume ;

Belmonte, Izaskun ;

Pedrosa, Irene ;

Alejaldre, Aida ;

Mayos, Merce ;

Suarez-Cuartin, Guillermo ;

Gallardo, Eduard ;

Illa, Isabel ;

Diaz-Manera, Jordi .

PLOS ONE, 2016, 11 (10)

[4] Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel [J].

Tarnopolsky, Mark ;

Katzberg, Hans ;

Petrof, Basil J. ;

Sirrs, Sandra ;

Sarnat, Harvey B. ;

Myers, Kimberley ;

Dupre, Nicolas ;

Dodig, Dubravka ;

Genge, Angela ;

Venance, Shannon L. ;

Korngut, Lawrence ;

Raiman, Julian ;

Khan, Aneal .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2016, 43 (04) :472-485

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