WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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1. リソソーム酸α-グルコシダーゼ欠損症（ポンペ病、糖原病II型、酸マルターゼ欠損症） lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency
2. 脊髄性筋萎縮症 spinal muscular atrophy
3. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
4. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
5. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies

Pathological characteristics of glycogen storage disease III in skeletal muscle.

Gershen LD1, Prayson BE2, Prayson RA3.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2015 Jun 9. pii: S0967-5868(15)00229-5. doi: 10.1016/j.jocn.2015.03.041. [Epub ahead of print]
We report a 25-year-old man with glycogenosis III who presented with a progressive 2year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some
PMID 26067541

Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning.

Favejee MM1, van den Berg LE2, Kruijshaar ME2, Wens SC3, Praet SF4, Pim Pijnappel WW5, van Doorn PA3, Bussmann JB4, van der Ploeg AT6.
Archives of physical medicine and rehabilitation.Arch Phys Med Rehabil.2015 May;96(5):817-22. doi: 10.1016/j.apmr.2014.11.020. Epub 2014 Dec 11.
OBJECTIVE: To assess if a 12-week exercise intervention to improve aerobic fitness, muscle strength, and core stability also had an impact on fatigue, pain, activity, and participation in adults with Pompe disease, an inherited neuromuscular disorder.DESIGN: Open-label trial. Change was assessed by
PMID 25499687

Jones HN1, Crisp KD, Asrani P, Sloane R, Kishnani PS.
Muscle & nerve.Muscle Nerve.2015 May;51(5):731-5. doi: 10.1002/mus.24523. Epub 2015 Jan 16.
INTRODUCTION: Skeletal muscle is common in late-onset Pompe disease (LOPD). Recent data implicate common bulbar muscle involvement (i.e., the tongue).METHODS: We used quantitative assessment of lingual strength to retrospectively determine the frequency and severity of lingual weakness in LOPD. We a
PMID 25399907