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Journal of Pediatric Hematology/Oncology|December 10, 2003
Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapyJohanna Svahn, Maria Cristina Schiaffino, Ubaldo Caruso, et al.
The Journal of International Medical Research|September 23, 2022
Quality of life aspects of a low protein diet using GMP in patients with phenylketonuriaGiulia Bensi, Maria Teresa Carbone, Maria Cristina Schiaffino, et al.
Pediatric Dermatology|June 23, 2011
A new SPINK5 mutation in a patient with Netherton syndrome: a case reportMaria G Alpigiani, Pietro Salvati, Maria Cristina Schiaffino, et al.
Children (Basel, Switzerland)|October 28, 2023
Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case ReportFrancesco Baldo, Enrico Drago, Daniela Nisticò, et al.
Molecular Genetics and Metabolism Reports|December 29, 2025
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature reviewFrancesca Cappozzo, Mariasavina Severino, Elena Gennaro, et al.
American Journal of Medical Genetics. Part A|August 5, 2015
New insights into central nervous system involvement in FOP: Case report and review of the literatureMarta Bertamino, Mariasavina Severino, Maria Cristina Schiaffino, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
Epilepsia|June 13, 2002
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic featuresRoberta Biancheri, Roberto Cerone, Andrea Rossi, et al.
Molecular Cytogenetics|December 6, 2014
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disordersStefania Gimelli, Valeria Capra, Maja Di Rocco, et al.
Italian Journal of Pediatrics|October 17, 2022
Long term follow-up in two siblings with Sengers syndrome: Case reportChiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, et al.
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