Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

(2011) Deeksha S. Bali et al.   MUSCLE & NERVE

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease

(2011) David Orlikowski et al.   NEUROMUSCULAR DISORDERS

Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II

(2010) Margreet G. E. M. Ausems et al.   CLINICAL GENETICS

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

(2010) Stefania Zampieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CRIM-negative infantile Pompe disease: 42-month treatment outcome

(2010) Marianne Rohrbach et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

The mammalian nonsense-mediated mRNA decay pathway: To decay or not to decay! Which players make the decision?

(2009) Ana Luísa Silva et al.   FEBS LETTERS

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

(2009) Sueli M. Oba-Shinjo et al.   JOURNAL OF NEUROLOGY

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

(2008) MG Pittis et al.   HUMAN MUTATION

Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results

(2008) M. A. Hamdan et al.   JOURNAL OF INHERITED METABOLIC DISEASE