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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 1, 2018
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma ElasticumMarta Bertamino, Mariasavina Severino, Alice Grossi, et al.Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|August 31, 2013
99mTc-sestamibi scintigraphy to monitor the long-term efficacy of enzyme replacement therapy on bone marrow infiltration in patients with Gaucher diseasePaola A Erba, Fabrizio Minichilli, Fiorina Giona, et al.American Journal of Medical Genetics. Part A|December 8, 2004
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and reviewMassimiliano Rossi, Pietro Vajro, Raffaele Iorio, et al.Metabolic Brain Disease|August 27, 2014
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian ChildMarisol Mirabelli-Badenier, Mariasavina Severino, Barbara Tappino, et al.European Journal of Pediatrics|July 10, 2012
Revised recommendations for the management of Gaucher disease in childrenPaige Kaplan, Hagit Baris, Linda De Meirleir, et al.European Journal of Human Genetics : EJHG|February 23, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patientsSilvia Russo, Maura Masciadri, Cristina Gervasini, et al.Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.Calcified Tissue International|July 31, 2021
Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans ProgressivaSarah E Warner, Frederick S Kaplan, Robert J Pignolo, et al.Acta Paediatrica (Oslo, Norway : 1992)|May 26, 2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatmentAnna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, et al.Neuropediatrics|July 19, 2019
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX GeneThea Giacomini, Maria Stella Vari, Sara Janis, et al.Pageof 14