Ausgabe 5/2017
Inhalt (17 Artikel)
PMM2-CDG and sensorineural hearing loss
Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, Deniz Yüksel, Lies Keldermans, Gert Matthijs, Jaak Jaeken
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases
Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Darius Ebrahimi-Fakhari
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms
Zahra Nochi, Rikke Katrine Jentoft Olsen, Niels Gregersen
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
D. Marques-da-Silva, R. Francisco, D. Webster, V. dos Reis Ferreira, J. Jaeken, T. Pulinilkunnil
Risk factors for poor bone health in primary mitochondrial disease
Shifa S. Gandhi, Colleen Muraresku, Elizabeth M. McCormick, Marni J. Falk, Shana E. McCormack
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
Fabian Peeks, Thomas A. H. Steunenberg, Foekje de Boer, M. Estela Rubio-Gozalbo, Monique Williams, Rob Burghard, Fabienne Rajas, Maaike H. Oosterveer, David A. Weinstein, Terry G. J. Derks
Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy
Gyongyi O. Okechuku, Lawrence R. Shoemaker, Monika Dambska, Laurie M. Brown, Justin Mathew, David A. Weinstein
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Víctor de Diego, Antonio F. Martínez-Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Andrea Poretti, Mercedes Serrano, Sergio Aguilera-Albesa, Ramón Cancho Candela, Ma Llanos Carrasco Marina, Francisco Carratalá, Ma Luz Couce, Ana Felipe, Óscar García, Ma Teresa García-Silva, Luis G Gutiérrez-Solana, Alfons Macaya, Ma Concepción Miranda, Laura López, Eduardo López-Laso, M Pilar Póo, Pilar Quijada-Fraile, Bernabé Robles, Concepción Sierra-Córcoles, Ramón Velázquez-Fragua
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome
Adeline A. Lau, Barbara M. King, Carly L. Thorsen, Sofia Hassiotis, Helen Beard, Paul J. Trim, Lauren S. Whyte, Sarah J. Tamang, Stephen K. Duplock, Marten F. Snel, John J. Hopwood, Kim M. Hemsley
Hearing loss in children with Fabry disease
E. Suntjens, W. A. Dreschler, J. Hess-Erga, R. Skrunes, F. A. Wijburg, G. E. Linthorst, C. Tøndel, M. Biegstraaten
Developmental window of sensorineural deafness in biotinidase-deficient mice
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, Alexander Gow
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
S. Balasubramaniam, L. G. Riley, D. Bratkovic, D. Ketteridge, N. Manton, M. J. Cowley, V. Gayevskiy, T. Roscioli, M. Mohamed, T. Gardeitchik, E. Morava, J. Christodoulou
Cataract and early nystagmus due to galactokinase deficiency
Vladimir Bzduch, Dana Tomcikova, Anton Gerinec, Darina Behulova
Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
M. Bellusci, P. Quijada-Fraile, D. Barrio-Carreras, E. Martin-Hernandez, M. Garcia-Silva, B. Merinero, B. Perez, A. Hernandez-Lain
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Víctor de Diego, Antonio F. Martínez-Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Andrea Poretti, Mercedes Serrano, Sergio Aguilera-Albesa, Ramón Cancho Candela, Ma Llanos Carrasco Marina, Francisco Carratalá, Ma Luz Couce, Ana Felipe, Óscar García, Ma Teresa García-Silva, Luis G Gutiérrez-Solana, Alfons Macaya, Ma Concepción Miranda, Laura López, Eduardo López-Laso, M Pilar Póo, Pilar Quijada-Fraile, Bernabé Robles, Concepción Sierra-Córcoles, Ramón Velázquez-Fragua