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Research Output 2018 2019

2019

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency

Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P. & Ceballos-Picot, I., Jun 2019, In : Molecular Genetics and Metabolism. 127, 2, p. 147-157 11 p.

Research output: Contribution to journalArticle

Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome
Molecular Biology
Gout
Natural History

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

Research output: Contribution to journalArticle

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Connective Tissue
Procollagen N-Endopeptidase
Phenotype

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, In : Clin. Genet..

Research output: Contribution to journalArticle

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, In : Clin. Genet..

Research output: Contribution to journalArticle

2018
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Cholesterol Ester Storage Disease
Enzyme Replacement Therapy
Liver Cirrhosis
Wolman Disease

Mucopolysaccharidoses: early diagnostic signs in infants and children

Galimberti, C., Madeo, A., Di Rocco, M. & Fiumara, A., Nov 16 2018, In : Italian Journal of Pediatrics. 44, 1 p.

Research output: Contribution to journalReview article

Mucopolysaccharidoses
Abdominal Hernia
Heart Murmurs
Heart Valve Diseases
Carpal Tunnel Syndrome
Epiphyses
Hip Dislocation
Peptide Hydrolases
Mutation
Genes
Gaucher Disease
Neuroblastoma
Splenomegaly
Thrombocytopenia
Registries