The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

Specific lipofuscin staining as a novel biomarker to detect replicative and stress-induced senescence. A method applicable in cryo-preserved and archival tissues

(2016) EA Georgakopoulou et al.   Aging-US

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

(2013) Katrin Kollmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies

(2013) Jessica R. Terrill et al.   FEBS Journal

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

(2013) Sean N Prater et al.   Orphanet Journal of Rare Diseases

Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

(2012) Nina Raben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

The emerging phenotype of long-term survivors with infantile Pompe disease

(2012) Sean N. Prater et al.   GENETICS IN MEDICINE

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

(2012) Ans T. van der Ploeg et al.   MOLECULAR GENETICS AND METABOLISM

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

(2012) Yin-Hsiu Chien et al.   PEDIATRIC NEUROLOGY

Quantification of Ceroid and Lipofuscin in Skeletal Muscle

(2011) Hatice Tohma et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

(2011) Rie S. Tsuburaya et al.   NEUROMUSCULAR DISORDERS

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

(2010) Nina Raben et al.   MOLECULAR GENETICS AND METABOLISM

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mitochondrial Turnover and Aging of Long-Lived Postmitotic Cells: The Mitochondrial–Lysosomal Axis Theory of Aging

(2009) Alexei Terman et al.   ANTIOXIDANTS & REDOX SIGNALING

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

(2008) Laura E. Case et al.   MOLECULAR GENETICS AND METABOLISM

Clinical features of late-onset Pompe disease: A prospective cohort study

(2008) John H.J. Wokke et al.   MUSCLE & NERVE

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS