Clinical Reasoning: A 38-year-old man with respiratory failure and progressive leg weakness

被引：0

作者：

McIntosh, Paul ^{[1
]}

Karam, Chafic ^{[2
,3
]}

机构：

[1] Univ N Carolina, Sch Med, Chapel Hill, NC USA

[2] Univ N Carolina, Dept Neurol, Chapel Hill, NC USA

[3] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

来源：

NEUROLOGY | 2016年 / 86卷 / 18期

关键词：

DISEASE; MANAGEMENT; DIAGNOSIS;

D O I：

10.1212/WNL.0000000000002634

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：E190 / E194

页数：5

共 10 条

[1] Physical therapy management of Pompe disease [J].

Case, Laura Elizabeth ;

Kishnani, Priya Sunil .

GENETICS IN MEDICINE, 2006, 8 (05) :318-327

[2] SCREENING FOR POMPE DISEASE USING A RAPID DRIED BLOOD SPOT METHOD: EXPERIENCE OF A CLINICAL DIAGNOSTIC LABORATORY [J].

Goldstein, Jennifer L. ;

Young, Sarah P. ;

Changela, Mohita ;

Dickerson, Gwen H. ;

Zhang, Haoyue ;

Dai, Jian ;

Peterson, Denise ;

Millington, David S. ;

Kishnani, Priya S. ;

Bali, Deeksha S. .

MUSCLE & NERVE, 2009, 40 (01) :32-36

[3] Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients [J].

Hagemans, MLC ;

Winkel, LPF ;

Van Doorn, PA ;

Hop, WJC ;

Loonen, MCB ;

Reuser, AJJ ;

Van der Ploeg, AT .

BRAIN, 2005, 128 :671-677

[4] ALPHA-GLUCOSIDASE DEFICIENCY IN GENERALIZED GLYCOGEN-STORAGE DISEASE (POMPES DISEASE) [J].

HERS, HG .

BIOCHEMICAL JOURNAL, 1963, 86 (01) :11-&

[5] Pompe disease diagnosis and management guideline [J].

Kishnani, Priya S. ;

Steiner, Robert D. ;

Bali, Deeksha ;

Berger, Kenneth ;

Byrne, Barry J. ;

Case, Laura ;

Crowley, John F. ;

Downs, Steven ;

Howell, R. Rodney ;

Kravitz, Richard M. ;

Mackey, Joanne ;

Marsden, Deborah ;

Martins, Anna Maria ;

Millington, David S. ;

Nicolino, Marc ;

O'Grady, Given ;

Patterson, Marc C. ;

Rapoport, David M. ;

Slonim, Alfred ;

Spencer, Carolyn T. ;

Tifft, Cynthia J. ;

Watson, Michael S. .

GENETICS IN MEDICINE, 2006, 8 (05) :267-288

[6] Pompe disease: A neuromuscular disease with respiratory muscle involvement [J].

Mellies, Uwe ;

Lofaso, Frederic .

RESPIRATORY MEDICINE, 2009, 103 (04) :477-484

[7] Pearls & Oy-sters: Clues to the diagnosis of adult-onset acid maltase deficiency [J].

Papsdorf, Tania B. Beltran ;

Howard, James F., Jr. ;

Chahin, Nizar .

NEUROLOGY, 2014, 82 (09) :E73-E75

[8] Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease [J].

Pellegrini, N ;

Laforet, P ;

Orlikowski, D ;

Pellegrini, M ;

Caillaud, C ;

Eymard, B ;

Raphael, JC ;

Lofaso, F .

EUROPEAN RESPIRATORY JOURNAL, 2005, 26 (06) :1024-1031

[9] Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa [J].

van der Ploeg, Ans T. ;

Barohn, Richard ;

Carlson, Lisa ;

Charrow, Joel ;

Clemens, Paula R. ;

Hopkin, Robert J. ;

Kishnani, Priya S. ;

Laforet, Pascal ;

Morgan, Claire ;

Nations, Sharon ;

Pestronk, Alan ;

Plotkin, Horacio ;

Rosenbloom, Barry E. ;

Sims, Katherine B. ;

Tsao, Elisa .

MOLECULAR GENETICS AND METABOLISM, 2012, 107 (03) :456-461

[10] Diagnosis of Pompe Disease Muscle Biopsy vs Blood-Based Assays [J].

Vissing, John ;

Lukacs, Zoltan ;

Straub, Volker .

JAMA NEUROLOGY, 2013, 70 (07) :923-927

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