Publications by authors named "Maria A Donati"

15Publications

"On air" diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female.

Minerva Pediatr 2020 Apr;72(2):142-144

Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Florence, Italy.

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http://dx.doi.org/10.23736/S0026-4946.19.05496-3DOI Listing
April 2020

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Neuromuscul Disord 2019 01 22;29(1):67-69. Epub 2018 Nov 22.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.11.006DOI Listing
January 2019

A Child With Ichthyosis and Liver Failure.

J Pediatr Gastroenterol Nutr 2017 09;65(3):e70-e73

*Paediatric and Liver Unit, Meyer Children's University Hospital of Florence, Florence †Laboratory of Medical Genetics, Papa Giovanni XXIII Hospital, Bergamo ‡Department of Health Science, University of Florence, Florence §Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa ||Metabolic and Muscular Unit ¶Pathology Unit, Meyer Children's University Hospital of Florence, Florence, Italy.

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http://dx.doi.org/10.1097/MPG.0000000000001645DOI Listing
September 2017

Infantile-Onset Pompe Disease: The Care Beyond the Cure.

J Neuromuscul Dis 2015;2(s1):S58-S59

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Italy.

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January 2015

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

ScientificWorldJournal 2013 31;2013:625824. Epub 2013 Oct 31.

Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy ; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Viale Pieraccini 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1155/2013/625824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833120PMC
June 2014

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Ann Neurol 2007 Oct;62(4):422-6

Department of Neurology and Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.21199DOI Listing
October 2007