Diego Martinelli

Diego Martinelli

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Diego Martinelli

Diego Martinelli

Publications by authors named "Diego Martinelli"

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Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.

Orphanet J Rare Dis 2019 Aug 23;14(1):208. Epub 2019 Aug 23.

Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-019-1181-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708179PMC
August 2019

Acute hyperammonemia in children under deferasirox treatment: cutting the Gordian knot.

Clin Toxicol (Phila) 2019 05 16;57(5):375-377. Epub 2018 Nov 16.

d DEA Paediatric Intensive Care Unit , IRCCS Bambino Gesù Children's Hospital , Rome , Italy.

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http://dx.doi.org/10.1080/15563650.2018.1523425DOI Listing
May 2019

Comprehensive analysis of how experimental parameters affect HS measurements by the monobromobimane method.

Free Radic Biol Med 2019 May 7;136:146-158. Epub 2019 Apr 7.

National Institute of Oncology, Department of Molecular Immunology and Toxicology, Ráth György Utca 7-9, Budapest, Hungary; Department of Medicine, Faculty of Medicine, University of Debrecen, 4012, Debrecen, Hungary. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08915849193030
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http://dx.doi.org/10.1016/j.freeradbiomed.2019.04.006DOI Listing
May 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Analysis of LPI-causing mutations on y+LAT1 function and localization.

Orphanet J Rare Dis 2019 03 4;14(1):63. Epub 2019 Mar 4.

Unit of General Pathology, Deptartment of Medicine and Surgery (DiMeC), University of Parma, Via Volturno 39, 43125, Parma, Italy.

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http://dx.doi.org/10.1186/s13023-019-1028-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399926PMC
March 2019

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

J Pediatr Endocrinol Metab 2019 Feb;32(2):101-108

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1515/jpem-2018-0311DOI Listing
February 2019

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.

Mol Ther Methods Clin Dev 2018 Sep 9;10:165-178. Epub 2018 Jul 9.

Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S23290501183006
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http://dx.doi.org/10.1016/j.omtm.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080355PMC
September 2018

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy.

Neurology 2018 09 17;91(12):565-567. Epub 2018 Aug 17.

From Bambino Gesù Children's Hospital (D.D., G.O., S.P., D. Maiorani, D. Martinelli, F.D., R.T., M.D., C.D.-V.), IRCCS; and Catholic University (G.O.), Fondazione Policlinico Agostino Gemelli, Rome, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006209DOI Listing
September 2018

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Clin Chim Acta 2018 Jun 10;481:156-160. Epub 2018 Mar 10.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS (Institute for Treatment and Research), Viale di S. Paolo 15, 00146 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2018.03.002DOI Listing
June 2018

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

The effect of swimming on oral health status: competitive versus non-competitive athletes.

J Appl Oral Sci 2016 Apr;24(2):107-13

Department of Medical, Oral, and Biotechnological Sciences, University "G. D'Annunzio", Chieti, Italy.

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http://dx.doi.org/10.1590/1678-775720150324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836916PMC
April 2016

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Cell Metab 2016 Feb 31;23(2):292-302. Epub 2015 Dec 31.

Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, 20892, Bethesda, MD, USA. Electronic address:

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http://www.cell.com/cell-metabolism/pdf/S1550-4131(15)00620-
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http://linkinghub.elsevier.com/retrieve/pii/S155041311500620
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http://dx.doi.org/10.1016/j.cmet.2015.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749439PMC
February 2016

Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain.

Neurology 2016 Jan;86(3):e32-3

From the Division of Metabolism, Department of Paediatric Medicine (D.M., C.D.-V.), Neuroradiology Unit (B.B., G.S.C.), and Unit of Imaging Research (A.N.), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000002284DOI Listing
January 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.

Acta Derm Venereol 2014 Sep;94(5):579-82

Dermatology Division, Bambino Gesù Children's Hospital-IRCCS, P.zza Sant'Onofrio, 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-1796DOI Listing
September 2014

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Pediatr Neurol 2014 Sep 4;51(3):430-3. Epub 2014 Jun 4.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.029DOI Listing
September 2014

Oral antiseptic and periodontitis: a clinical and microbiological study.

Oral Health Dent Manag 2014 Sep;13(3):698-702

Department of Experimental and Clinical Sciences, Dental School, University "G. D'Annunzio" of Chieti-Pescara, Via dei Vestini, 31 66100, Chieti, Italy; Tel. +3908713554063; e-mail:

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September 2014

Influence of sport mouthguards on the ecological factors of the children oral cavity.

BMC Oral Health 2014 Aug 5;14:97. Epub 2014 Aug 5.

Departments of Sperimental and Clinical Sciences, Dental School, University "G, D'Annunzio" of Chieti-Pescara, Chieti, Italy.

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http://dx.doi.org/10.1186/1472-6831-14-97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4146445PMC
August 2014

AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

Ann N Y Acad Sci 2014 May 22;1314:55-63. Epub 2014 Apr 22.

Unit of Metabolism, Department of Pediatrics, Bambino Gesu Children's Hospital, Rome, Italy; Section on Translational Neuroscience, Molecular Medicine Program, NICHD/NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1111/nyas.12426DOI Listing
May 2014

Glutathione metabolism in cobalamin deficiency type C (cblC).

J Inherit Metab Dis 2014 Jan 9;37(1):125-9. Epub 2013 Apr 9.

Laboratory of Metabolomics and Proteomics, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 4-00165, Rome, Italy,

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http://dx.doi.org/10.1007/s10545-013-9605-3DOI Listing
January 2014

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.

Mol Genet Metab 2013 Aug 29;109(4):329-30. Epub 2013 May 29.

Division of Metabolism & Laboratory of Metabolomics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.013DOI Listing
August 2013

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Neurogenetics 2012 Nov 18;13(4):375-86. Epub 2012 Sep 18.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-012-0343-8DOI Listing
November 2012

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

Eur J Paediatr Neurol 2012 Sep 18;16(5):509-13. Epub 2012 Jan 18.

Neurology Unit, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.12.015DOI Listing
September 2012

Creatine metabolism in urea cycle defects.

J Inherit Metab Dis 2012 Jul 30;35(4):647-53. Epub 2012 May 30.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10545-012-9494-xDOI Listing
July 2012

Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.

Mol Genet Metab 2012 Apr 17;105(4):585-9. Epub 2012 Jan 17.

Dipartimento di Medicina Sperimentale, Sezione di Patologia Generale e Clinica, Università degli Studi di Parma, Parma, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.008DOI Listing
April 2012

LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I.

Anal Chem 2012 Jan 29;84(2):1184-8. Epub 2011 Dec 29.

Mass Spectrometry Laboratory, Clinic of Pediatric Neurology, Meyer University Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1021/ac202695hDOI Listing
January 2012

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

J Pharm Biomed Anal 2011 Dec 16;56(4):792-8. Epub 2011 Jun 16.

Division of Metabolism, Bambino Gesù Pediatric Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpba.2011.06.006DOI Listing
December 2011

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Eur J Pediatr 2011 Jul 10;170(7):887-90. Epub 2010 Dec 10.

Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-010-1371-8DOI Listing
July 2011

Atypical presentation of renal angiomyolipomas in a child with tuberous sclerosis complex.

Iran J Pediatr 2011 Jun;21(2):256-7

Department of Pediatric Sciences and Pediatric Neurology, Catholic University, A. Gemelli Hospital, Rome, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446160PMC
June 2011

Cobalamin C defect: natural history, pathophysiology, and treatment.

J Inherit Metab Dis 2011 Feb 15;34(1):127-35. Epub 2010 Jul 15.

Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s10545-010-9161-zDOI Listing
February 2011

Migraine-like headache and status migrainosus as attacks of multiple sclerosis in a child.

Pediatrics 2010 Aug 5;126(2):e459-64. Epub 2010 Jul 5.

Unit of Child Neuropsychiatry, Institute of Neurology, Catholic University of Rome, Rome, Italy.

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http://dx.doi.org/10.1542/peds.2009-2098DOI Listing
August 2010

Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys.

Am J Med Genet A 2010 Jun;152A(6):1420-7

Università Cattolica del Sacro Cuore, Cattedra di Neuropsichiatria Infantile, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33484DOI Listing
June 2010

Segmental spinal myoclonus and metastatic cervical ganglioglioma: an unusual association.

J Child Neurol 2009 Mar;24(3):365-9

Pediatric Neurosurgery, Catholic University Medical School, Rome, Italy.

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http://dx.doi.org/10.1177/0883073808323027DOI Listing
March 2009