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Documents Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

Balcin, Hasan 2017-07 Balcin , H , Palmio , J , Penttila , S , Nennesmo , I , Lindfors , M , Solders , G & Udd , B 2017 , ' Late-onset limb-girdle muscular dystrophy

Documents An unusual Cause of Late-Onset Dysphagia: Aberrant Right Subclavian Artery

An unusual Cause of Late-Onset Dysphagia: Aberrant Right Subclavian Artery Serdar Aslan,1 Muzaffer Elmal2 Dysphagia that develops in the late period due to vascular compression

Documents GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

Page 1/12 GALC mutations in Chinese patients with late-onset Krabbe disease: a case report Shunzhi Zhuang  the First People's Hospital of Huizhou City Lingen Kong 

Documents Presentation and management of classical urea cycle disorders: lessons from our experience

89 Presentation and management of classical urea cycle disorders: lessons from our experience Klasik üre döngüsü bozukluklar hastalklarnn klinik ve hasta

Documents Clinical guidelines for late-onset Pompe disease

GUIDELINES Introduction Glycogen storage disease type II or Pompe disease (OMIM Entry # 232300), also referred to as acid maltase deficiency, is a rare lysosomal storage

Documents Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe diseaseNeuromuscular Disorders 32 (2022) 195–205 www.elsevier.com/locate/nmd

Documents A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case...

Raymond Y. Wang 1,2,† 1 Division of Metabolic Disorders, CHOC Children’s Specialists, Orange, CA 92868, USA; [email protected] 2 Department of Pediatrics, University

Documents Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a...

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case reportCASE REPORT Open Access Late-onset MELAS syndrome with mtDNA