Publications by authors named "Carlo Dionisi-Vici"

100Publications

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).

Clin Chem Lab Med 2020 Aug 10. Epub 2020 Aug 10.

Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.1515/cclm-2020-0650DOI Listing
August 2020

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Neuroradiology 2020 Oct 22;62(10):1315-1321. Epub 2020 Jul 22.

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00234-020-02501-0DOI Listing
October 2020

The New Horizon of Split-Liver Transplantation: Ex Situ Liver Splitting During Hypothermic Oxygenated Machine Perfusion.

Liver Transpl 2020 Oct;26(10):1363-1367

Division of Hepatology and Gastroenterology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy.

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http://dx.doi.org/10.1002/lt.25843DOI Listing
October 2020

A new HPLC-DAD method for contemporary quantification of 10 antibiotics for therapeutic drug monitoring of critically ill pediatric patients.

Biomed Chromatogr 2020 May 12:e4880. Epub 2020 May 12.

Department of Pediatric Medicine, Laboratory of Metabolic Biochemistry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/bmc.4880DOI Listing
May 2020

CUGC for lysinuric protein intolerance (LPI).

Eur J Hum Genet 2020 Aug 6;28(8):1129-1134. Epub 2020 Apr 6.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/s41431-020-0617-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381597PMC
August 2020

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Eur J Hum Genet 2020 Jul 2;28(7):982-987. Epub 2020 Apr 2.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/s41431-020-0616-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316770PMC
July 2020

AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.

Dig Liver Dis 2020 04 2;52(4):359-367. Epub 2020 Jan 2.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, and Translational Medicine, Department of Transfusion Medicine and Hematology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2019.12.005DOI Listing
April 2020

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.

J Inherit Metab Dis 2020 May 1;43(3):540-548. Epub 2020 Jan 1.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1002/jimd.12203DOI Listing
May 2020

Early neurodevelopmental characterization in children with cobalamin C/defect.

J Inherit Metab Dis 2020 Mar 16;43(2):367-374. Epub 2020 Jan 16.

Pediatric Neurology, Department of Human and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.

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http://dx.doi.org/10.1002/jimd.12171DOI Listing
March 2020

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

Orphanet J Rare Dis 2019 08 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

Chronic liver involvement in urea cycle disorders.

J Inherit Metab Dis 2019 11 25;42(6):1118-1127. Epub 2019 Aug 25.

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

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http://dx.doi.org/10.1002/jimd.12144DOI Listing
November 2019

Maple Syrup Urine Disease and Domino Liver Transplantation: When and How?

Liver Transpl 2019 06;25(6):827-828

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/lt.25481
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http://dx.doi.org/10.1002/lt.25481DOI Listing
June 2019

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Mol Genet Genomic Med 2019 05 27;7(5):e634. Epub 2019 Mar 27.

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

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http://dx.doi.org/10.1002/mgg3.634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503021PMC
May 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

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 03 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

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

J Inherit Metab Dis 2019 11 5;42(6):1147-1161. Epub 2019 Feb 5.

Division of Metabolism and Children Research Centre (CRC), University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12047DOI Listing
November 2019

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

J Pediatr 2018 11 5;202:272-278.e4. Epub 2018 Sep 5.

Division of Metabolic Diseases, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.06.050DOI Listing
November 2018

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.

Clin Chim Acta 2018 Nov 25;486:387-394. Epub 2018 Aug 25.

Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.08.039DOI Listing
November 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

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

NTBC and Correction of Renal Dysfunction.

Adv Exp Med Biol 2017 ;959:93-100

Metabolic Unit, Department of Pediatric Specialties, Bambino Gesù Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/978-3-319-55780-9_8DOI Listing
December 2017

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.

J Inherit Metab Dis 2017 07 27;40(4):531-542. Epub 2017 Jun 27.

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

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http://dx.doi.org/10.1007/s10545-017-0059-xDOI Listing
July 2017

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Metab Brain Dis 2017 10 3;32(5):1529-1536. Epub 2017 Jun 3.

Department of Pediatrics, University Children's Hospital, Padua, Italy.

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http://dx.doi.org/10.1007/s11011-017-0044-yDOI Listing
October 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

Genet Med 2017 09 13;19(9):967-974. Epub 2017 Apr 13.

Department of Pediatrics Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1038/gim.2017.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589980PMC
September 2017

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Dev Med Child Neurol 2016 10 13;58(10):1085-91. Epub 2016 May 13.

Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital - University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/dmcn.13141DOI Listing
October 2016

Vici syndrome: a review.

Orphanet J Rare Dis 2016 Feb 29;11:21. Epub 2016 Feb 29.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1186/s13023-016-0399-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772338PMC
February 2016

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Brain 2016 Apr 25;139(Pt 4):1045-51. Epub 2016 Feb 25.

Department of Surgery and Transplantation, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/aww013DOI Listing
April 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

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

J Lipid Res 2016 Mar 5;57(3):361-7. Epub 2016 Jan 5.

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

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http://dx.doi.org/10.1194/jlr.M061978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766985PMC
March 2016

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Orphanet J Rare Dis 2015 Sep 24;10:120. Epub 2015 Sep 24.

Metabolic Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-015-0342-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581011PMC
September 2015

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

Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.

JPEN J Parenter Enteral Nutr 2016 08 15;40(6):886-9. Epub 2015 Jan 15.

Department of Neonatology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.

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http://dx.doi.org/10.1177/0148607114568316DOI Listing
August 2016

Determination of plasma pipecolic acid by an easy and rapid liquid chromatography-tandem mass spectrometry method.

Clin Chim Acta 2015 Feb 15;440:108-12. Epub 2014 Nov 15.

Department of Laboratory Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2014.11.014DOI Listing
February 2015

Short-term survival of hyperammonemic neonates treated with dialysis.

Pediatr Nephrol 2015 May 4;30(5):839-47. Epub 2014 Sep 4.

Nephrology and Dialysis Unit, Department of Nephrology-Urology, "Bambino Gesù" Children's Hospital-IRCCS, Rome, Italy,

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http://dx.doi.org/10.1007/s00467-014-2945-xDOI Listing
May 2015

Fruit-induced FPIES masquerading as hereditary fructose intolerance.

Pediatrics 2014 Aug 7;134(2):e602-5. Epub 2014 Jul 7.

Division of Allergy and.

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http://dx.doi.org/10.1542/peds.2013-2623DOI Listing
August 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

Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis.

Nutrition 2014 Jul-Aug;30(7-8):948-52. Epub 2014 Mar 13.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Department of Pediatric Medicine, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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http://search.proquest.com/openview/d35d7f422a0899cd6bd704be
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http://linkinghub.elsevier.com/retrieve/pii/S089990071400124
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http://dx.doi.org/10.1016/j.nut.2014.02.019DOI Listing
February 2015

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

Eur J Pediatr 2014 Oct 21;173(10):1391-4. Epub 2014 May 21.

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

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http://link.springer.com/10.1007/s00431-014-2338-y
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http://dx.doi.org/10.1007/s00431-014-2338-yDOI Listing
October 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

Differential diagnosis of food protein-induced enterocolitis syndrome.

Curr Opin Allergy Clin Immunol 2014 Jun;14(3):246-54

aDivision of Allergy, Department of Pediatric Medicine, Pediatric Hospital Bambino Gesù, Rome, Vatican City bUnit of Immunology and Infectious Diseases, University-Hospital Pediatric Department, Pediatric Hospital Bambino Gesù, Rome, Vatican City cUnit of Metabolism, Department of Pediatric Medicine, Pediatric Hospital Bambino Gesù, Rome, Vatican City dPediatric Division, Santa Corona Hospital, Garbagnate, Milan, Italy.

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http://dx.doi.org/10.1097/ACI.0000000000000057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4011629PMC
June 2014

Gender-related effects on urine L-cystine metastability.

Amino Acids 2014 Feb 11;46(2):415-27. Epub 2013 Dec 11.

Gene Expression-Microarrays Laboratory, Bambino Gesù Children's Hospital - IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy,

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http://dx.doi.org/10.1007/s00726-013-1631-9DOI Listing
February 2014

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry.

Clin Chim Acta 2014 Feb 22;429:30-3. Epub 2013 Nov 22.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2013.11.016DOI Listing
February 2014

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Mol Genet Metab 2013 Nov 7;110(3):329-35. Epub 2013 Aug 7.

Division of Metabolism, Department of Pediatric Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.019DOI Listing
November 2013

Clinical utility gene card for: Vici Syndrome.

Eur J Hum Genet 2014 Mar 10;22(3). Epub 2013 Jul 10.

1] Randall Division for Cell and Molecular Biophysics, King's College, London, UK [2] Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, UK [3] Clinical Neuroscience Division, IoP, King's College, London, UK.

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http://dx.doi.org/10.1038/ejhg.2013.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925270PMC
March 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