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Maja Di Rocco

Istituto Giannina Gaslini

162

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4024

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Morquio B disease: From pathophysiology towards diagnosis.

2021 Molecular Genetics and Metabolism
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Impact of SARS-CoV-2 infection on Gaucher disease patients in Italy

2021 Molecular Genetics and Metabolism
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Garetosmab Reduces Flare-ups in Patients With Fibrodysplasia Ossificans Progressiva

2021 Journal of the Endocrine Society
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Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva.

2021 Calcified Tissue International
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An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy

2020 Quantitative imaging in medicine and surgery
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

2020 Human Molecular Genetics
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RARS1-related leukodystrophy: When hypomyelination meets brain atrophy

2020
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Measuring outcomes in ultra-rare bone diseases: Methodology of the palovarotene fibrodysplasia ossificans progressiva clinical development programme

2020 Bone reports
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JCM, Vol. 9, Pages 679: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

2020 Journal of Clinical Medicine
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Stomatocytes and macrothrombocytopenia: A blood film for a rare disease

2020
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