Clinical and molecular features of mitochondrial DNA depletion syndromes von Spinazzola, A, Invernizzi, F, Carrara, F, Lamantea, E, Donati, A, DiRocco, M, Giordano, I, Meznaric-Petrusa, M, Baruffini, E, Ferrero, I, Zeviani, M

Volltext

Ectomycorrhizal fungal spore bank recovery after a severe forest fire: some like it hot von Glassman, Sydney I, Levine, Carrie R, DiRocco, Angela M, Battles, John J, Bruns, Thomas D

Volltext

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients von Solyom, A., Ehlert, K., Hügle, B., Magnusson, B., Grigelioniene, G., Guelbert, N., Gardner-Medwin, J., Tanpaiboon, P., Jung, L., Puri, R., DiRocco, M., Mitchell, J., Beck, M., Simonaro, C., Schuchman, E.

Volltext

P1211 : Efficacy and safety of sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Results of a phase 3 trial von Rojas-Caro, S, Baric, I, Camarena Grande, C, Coker, M, Deegan, P, DiRocco, M, Ezgu, F.S, Feillet, F, Malinova, V, Mengel, E, Murphy, E, Pastor Rosado, J, Rahman, Y, Scarpa, M, Schwab, K.O, Smolka, V, Taybert, J, Valayannopoulos, V, Yang, Y, Quinn, A

Volltext

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gauch... von Kishnani, P.S., DiRocco, M., Kaplan, P., Mehta, A., Pastores, G.M., Smith, S.E., Puga, A.C., Lemay, R.M., Weinreb, N.J.

Volltext

Testicular sperm extraction in azoospermic men submitted to bilateral orchidopexy von Negri, L., Albani, E., DiRocco, M., Morreale, G., Novara, P., Levi‐Setti, P.E.

Volltext

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy von Elsea, Sarah H., Solyom, Alexander, Martin, Kirt, Harmatz, Paul, Mitchell, John, Lampe, Christina, Grant, Christina, Selim, Laila, Mungan, Neslihan Oneli, Guelbert, Norberto, Magnusson, Bo, Sundberg, Erik, Puri, Ratna, Kapoor, Seema, Arslan, Nur, DiRocco, Maja, Zaki, Maha, Ozen, Seza, Mahmoud, Iman G., Ehlert, Karoline, Hahn, Andreas, Gokcay, Gulden, Torcoletti, Marta, Ferreira, Carlos R.

Volltext

Neuroimaging Findings in Malignant Infantile Osteopetrosis due to OSTM1 Mutations von Chiodo, D. Castellano, DiRocco, M., Gandolfo, C., Morana, G., Buzzi, D., Rossi, A.

Volltext

M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome) von Bruno, C, Bertini, E, DiRocco, M, Cassandrini, D, Ruffa, G, DeToni, T, Spada, M, Li Volti, S, D’Amico, A, Seri, M, Casali, C, Angelini, C, Minetti, C, Di Mauro, S

Volltext

Mutations in the glucose‐6‐phosphatase gene of 53 Italian patients with glycogen storage disease type Ia von Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P., Gatti, R.

Volltext

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy von Bruno, C, DiRocco, M, Doria Lamba, L, Bado, M, Marino, C, Tsujino, S, Shanske, S, Stella, G, Minetti, C, van Diggelen, O.P, DiMauro, S

Volltext

Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance von DIROCCO, M, GARIBOTTO, G, ROSSI, G. A, CARUSO, U, TACCONE, A, PICCO, P, BORRONE, C

Volltext

Metabolic defect in arthrogryposis multiplex congenita with renal and hepatic abnormalities von DiRocco, M., Borrone, C.

Volltext

FARBER DISEASE: FIRST NATURAL HISTORY COHORT DEMONSTRATES A BROAD CLINICAL SPECTRUM WITH IMPLICATIONS FOR JUVENILE IDIOPATHIC ARTHRITIS PATIENTS von Solyom, A, Ehlert, K, Hugle, B, Magnusson, B, Grigelioniene, G, Guelbert, N, Gardner-Medwin, J, Tanpaiboon, P, Jung, L, Puri, R, DiRocco, M, Mitchell, J, Beck, M, Simonaro, C, Schuchman, E

Volltext

Diagnostic problems in congenital myotonic dystrophy von DiRocco, M, Gennarelli, M, Veneselli, E, Bado, M, Romanengo, M, Celle, M E, Cordone, G, Borrone, C

Volltext

Cytochrome c oxidase deficiency in leigh syndrome von DiMauro, Salvatore, Servidei, Serenella, Zeviani, Massimo, DiRocco, Maja, DeVivo, Darryl C., DiDonato, Stefano, Uziel, Graziella, Berry, Kenneth, Hoganson, George, Johnsen, Stanley D., Johnson, Peter C.

Volltext

X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea von Di Rocco, M, Marta, R

Volltext

DEFINITION OF A PREDICTIVE MARKER OF CLINICAL ACTIVITY IN DUPUYTREN’S DESEASE: SMOOTH ALFA ACTIN von SMARRELLI, D., LAZZERINI, A., DESPIRITO, D., D’AGOSTINO, M., TIBALT, E., DIROCCO, M., FIAMENGO, B., FRANCESCHINI, B., GRIZZI, F.

Volltext

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report von Romanengo, Marta, Tortori‐Donati, Paolo, Rocco, Maja Di

Volltext

Point Mutations in the Tyrosine Aminotransferase Gene in Tyrosinemia Type II von Natt, Ernst, Kida, Kaichi, Odievre, Michele, Di Rocco, Maja, Scherer, Gerd

Volltext