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The SSIEM (Society for the Study of Inborn Errors of Metabolism) Annual Symposium was held in Rotterdam, the Netherlands, from September 3 to September 6, 2019. This year’s Symposium President was Dr. Ans van der Ploeg.

The symposium abstracts are published on the Journal of Inherited  Metabolic Disease, JIMD, and can be found at this link.

Here is a list of the relevant titles for Pompe disease that can be found in the journal at the above link:

 

Engineered human iPSC-derived skeletal muscles to model Pompe disease

Herrero-Hernandez P, Luliano A, Van Der Wal E, Saggiomo V, Van der Ploeg A T, De Greef J C, Pijnappel W W M

 

Benefits of higher and more frequent dosing and immunomodulation on long-term outcome in classic infantile Pompe disease

Poelman E, Van den Dorpel J J A, Hoogeveen-Westerveld M, Van der Giessen L J, Van den Hout J M P, Van der Beek N A M, Pijnappel W W M, Van der Ploeg A T

 

Central nervous system involvement in late-onset Pompe disease: a role for brief cognitive assessment?

Duraes J, Monteiro I R, Lacerda L, Macario M C

 

Urinary tetrasaccharide is a biomarker for Pompe disease

Saville J T, McDermott B K, Fuller M

 

Stem cell mediated lentiviral gene therapy corrects central nervous system pathology in a murine model of Pompe disease

Vlaar E C, Catalano F, Liang Q, Pijnenburg J M, Van der Ploeg A T, Pijnappel W W M

 

Ex-vivo expanded muscle regenerative cells for the treatment of Pompe disease

Canibano-Fraile R, Milazzo C, Van der Ploeg A T, Pijnappel W W M, Schaaf G J

 

Combined proteomic and lipidomic studies in Pompe disease

Sidorina A, Catesini G, Deodato F, Levi Mortera S, Marzano V, Putignani L, Vernocchi P, Boenzi S, Garibaldi M, Taurisano R, Dionisi-Vici C

 

Chest MRI to diagnose early diaphragmatic weakness in adult patients with Pompe disease

Harlaar L, Ciet P, Van Tulder G, Pittaro A, Van Kooten H A, Van der Beek N A M, Brusse E, Wielopolski P A, De Bruijne M, Van der Ploeg A T, Tiddens H A W, Van Doorn P A

 

Severe distal muscle weakness in enzyme-treated classic infantile Pompe patients

Van den Dorpel J J A, Poelman E, Harlaar L, Van Kooten H A, Van der Giessen L J, Van Doorn P A, Van der Ploeg A T, Van den Hout J M P, Van der Beek N A M

 

Cross-European validity of the Rasch-built Pompe-specific Activity (R-PAct) scale

Van der Beek N, Van Kooten H, Wenninger S, Schoser B, Diaz-Manera J, Laforet P, Brusse E, Merkies I, Van Doorn P, Van der Ploeg A, Pallant J

 

Discontinuation of enzyme replacement therapy in adults with Pompe disease: evaluating motives and clinical course.

Van Kooten H A, Harlaar L, Van Der Beek N A M, Van Doorn P A, Van Der Ploeg A T, Brusse E

 

Airway anomalies in infantile-onset pompe disease: a large-scale survey by flexible bronchoscopy.

Yang C F

 

Efficacy of hyperproteic diet combined with exercise in patients with late-onset Pompe disease

Sechi A, Zuccarelli L, Grassi B, Frangiamore R, De Amicis R, Marorati M, Bacco A, Porcelli S, Bembi B

 

Long term follow-up of patients diagnosed by Pompe Disease newborn screening

Pascarella A, Gueraldi D, Polo G, Rubert L, Cazzorla C, Giuliani A, Massa P, Burlina A P, Burlina A B

 

A genetic modifier of symptom onset in Pompe disease

Bergsma A J, In 't Groen S L M, Van den Hout J M P, Van der Beek N A M, Van den Dorpel J J A, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Pasquini E, Tummolo A, Van der Ploeg A T, Pim Pijnappel WWM

 

Variable effects of enzyme replacement therapy in adults with Pompe disease: 10 years’ follow-up

Harlaar L, Hogrel J Y, Perniconi B, Kruijshaar M E, Rizopoulos D, Taouagh N, Canal A, Brusse E, Van Doorn P A, Laforet P, Van der Beek N A M, Van der Ploeg A T

 

Urinary Glucose Tetrasaccharide: a useful Prognostic Biomarker for Pompe Disease?

Prunty H, Cleary M, Davison J, Harvey K, Burke D, Guilder L, Odho Z, Heales S

 

Preclinical development of SPK-3006, an investigational liver-directed AAV gene therapy for the treatment of Pompe disease

Armour S M, Nordin J M L, Costa Verdera H, Cohen D M, Sellier P, Crosariol M, Collaud F, Riling C, Quinn III W J, Hanby H, Cagin U, Puzzo F, Haurigot V, Ronzitti G, Colella P, Anguela X M, Mingozzi F

 

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

Nino M Y, In 't Groen S L M, Bergsma A J, De Faria D O S, Van der Beek N A M, Kroos M, Hoogeveen-Westerveld-M, Van der Ploeg A T, Pijnappel W W M

 

Characteristics of Pompe disease patients with and without the c.-32-13T>G (IVS1) variant: data from the Pompe Registry

Van der Ploeg A T, Mongini T E, Schoser B, Stockton D W, Araujo R, Maruti S S, Abbott M A

 

Evidence of increased oxidative stress in Pompe disease. A new therapeutic target?

Tarallo A, Damiano C, Minopoli N, Zappa F, Coletta M, Porto C, Strollo S, Baldi R, Monti D M, De Matteis M A, Parenti G

 

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease

Colle M A, Lagalice L, Pichon J, Gougeon E, Soussi S, Deniaud J, Ledevin M, Maurier V, Leroux I, Durand S, Ciron C, Franzoso F, Dubreil L, Larcher T, Rouger K

 

Clinical characteristics and molecular genetic analysis of Moroccan patients in infantile-onset Pompe disease

Abilkassem R, Hassani A, Sellouti M, Ourrai A, Kmari M, Agadr A