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Research Output 1984 2019

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2019

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

Rotoli, B. M., Barilli, A., Ingoglia, F., Visigalli, R., Bianchi, M. G., Ferrari, F., Martinelli, D., Dionisi-Vici, C. & Dall'Asta, V., Mar 4 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 63

Research output: Contribution to journalArticle

Mutation
Arginine
CHO Cells
Monocytes
Proteins

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Baruteau, J., Diez-Fernandez, C., Lerner, S., Ranucci, G., Gissen, P., Dionisi-Vici, C., Nagamani, S., Erez, A. & Häberle, J., Feb 5 2019, In : Journal of Inherited Metabolic Disease. p. 1-15 15 p.

Research output: Contribution to journalArticle

Argininosuccinic Aciduria
Argininosuccinate Lyase
Standard of Care
Phenotype
Arginine

Chronic Liver Involvement in Urea Cycle Disorders

Ranucci, G., Rigoldi, M., Cotugno, G., Bernabei, S., Liguori, A., Gasperini, S., Goffredo, B., Martinelli, D., Monti, L., Francalanci, P., Candusso, M., Parini, R. & Dionisi-Vici, C., Jul 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Liver
Liver Diseases
Chronic Disease
alpha-Fetoproteins
Hereditary Spastic Paraplegia
Pyramidal Tracts
Inborn Urea Cycle Disorder
Intellectual Disability
Hyperargininemia
Maple Syrup Urine Disease
Liver Transplantation
Polyneuropathies
Liver
Metabolic Diseases

Newborn screening for homocystinurias: Recent recommendations versus current practice

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 128-139 12 p.

Research output: Contribution to journalArticle

Homocystinuria
Newborn Infant
propionylcarnitine
Homocysteine
Methionine

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

Magini, P., Marco-Marin, C., Escamilla-Honrubia, J. M., Martinelli, D., Dionisi-Vici, C., Faravelli, F., Forzano, F., Seri, M., Rubio, V. & Panza, E., Aug 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1533-1540 8 p.

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Ligases
Mutation
Baculoviridae
Paraplegia

Phase I/II Trial of Liver Derived Mesenchymal Stem Cells in Pediatric Liver Based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-Derived Progenitor Cells (HepaStem®) in Urea Cycle Disorders and Crigler-Najjar Syndrome patients

Smets, F., Dobbelaere, D., McKiernan, P., Dionisi-Vici, C., Broué, P., Jacquemin, E., Lopes, A. I., Gonçalves, I., Mandel, H., Pawlowska, J., Kamińska, D., Shteyer, E., Torre, G., Shapiro, R., Eyskens, F., Clapuyt, P., Gissen, P., Pariente, D., Grunewald, S., Yudkoff, M. & 6 others, Binda, M. M., Najimi, M., Belmonte, N., Vos, B. D., Thonnard, J. & Sokal, E., Feb 18 2019, In : Transplantation.

Research output: Contribution to journalArticle

Crigler-Najjar Syndrome
Inborn Urea Cycle Disorder
Mesenchymal Stromal Cells
Stem Cells
Pediatrics
Vitamin B 12
Registries
Phenotype
Eye Diseases
Therapeutics

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., Hinman, A., Malone, S. A., Bruegger, J. J., Wang, L., Kim, V., Shrader, W. D., Hoff, K. G., Latham, J. C., Ashley, E. A., Wheeler, M. T., Bertini, E., Carrozzo, R., Martinelli, D., Dionisi-Vici, C. & 9 others, Chapman, K. A., Enns, G. M., Gahl, W., Wolfe, L., Saneto, R. P., Johnson, S. C., Trimmer, J. K., Klein, M. B. & Holst, C. R., Mar 28 2019, In : PLoS One. 14, 3, p. e0214250

Research output: Contribution to journalArticle

Mitochondrial Diseases
epilepsy
Arachidonate 15-Lipoxygenase
lipoxygenase
Epilepsy

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

Additional individual contributors of the UCDC and the E-IMD consortium, Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 93-106 14 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Rare Diseases
Research
Ornithine Carbamoyltransferase Deficiency Disease
Databases

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

Ponzi, E., Alesi, V., Lepri, F. R., Genovese, S., Loddo, S., Mucciolo, M., Novelli, A., Dionisi-Vici, C. & Maiorana, A., Mar 27 2019, In : Molecular genetics & genomic medicine. p. e634

Research output: Contribution to journalArticle

Glycogen Storage Disease Type III
Uniparental Disomy
Chromosomes, Human, Pair 1
Growth
Genes
2018

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

Diodato, D., Olivieri, G., Pro, S., Maiorani, D., Martinelli, D., Deodato, F., Taurisano, R., Di Capua, M. & Dionisi-Vici, C., Sep 18 2018, In : Neurology. 91, 12, p. 565-567 3 p.

Research output: Contribution to journalArticle

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins

Torraco, A., Stehling, O., Stümpfig, C., Rösser, R., De Rasmo, D., Fiermonte, G., Verrigni, D., Rizza, T., Vozza, A., Di Nottia, M., Diodato, D., Martinelli, D., Piemonte, F., Dionisi-Vici, C., Bertini, E., Lill, R. & Carrozzo, R., Aug 1 2018, In : Human Molecular Genetics. p. 2739–2754 16 p.

Research output: Contribution to journalArticle

Thioctic Acid
Mutation
Nonketotic Hyperglycinemia
Lactic Acidosis
Proteins

Newborn screening for homocystinurias: recent recommendations versus current practice

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Jun 15 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Homocystinuria
Newborn Infant
propionylcarnitine
Homocysteine
Methionine

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

Ponzi, E., Maiorana, A., Lepri, F. R., Mucciolo, M., Semeraro, M., Taurisano, R., Olivieri, G., Novelli, A. & Dionisi-Vici, C., Nov 2018, In : Journal of Pediatrics. 202, p. 272-278.e4 7 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Hypoglycemia
Genes
Glycogen Storage Disease
Mitochondrial Diseases
Vitamin B 12
Registries
Phenotype
Eye Diseases
Therapeutics
Type A Niemann-Pick Disease
Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase
Biomarkers
Sphingolipids

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

Semeraro, M., Boenzi, S., Carrozzo, R., Diodato, D., Martinelli, D., Olivieri, G., Antonetti, G., Sacchetti, E., Catesini, G., Rizzo, C. & Dionisi-Vici, C., Jun 2018, In : Clinica Chimica Acta. 481, p. 156-160 5 p.

Research output: Contribution to journalArticle

Kearns-Sayre Syndrome
Organic acids
Mitochondrial DNA
Acids
Metabolites

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases

Additional individual contributors of the UCDC and the E-IMD consortium, Jul 4 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Rare Diseases
Research
Ornithine Carbamoyltransferase Deficiency Disease
Databases
2017

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

Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M. K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C. S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., Taurisano, R. & 6 others, Alhaddad, B., Kovacs-Nagy, R., Haack, T. B., Dionisi-Vici, C., Pronicka, E. & Wortmann, S. B., Aug 1 2017, In : Clinica Chimica Acta. 471, p. 95-100 6 p.

Research output: Contribution to journalArticle

Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase (Ammonia)
Inborn Urea Cycle Disorder
Differential Diagnosis
Newborn Infant

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

McGovern, M. M., Dionisi-Vici, C., Giugliani, R., Hwu, P., Lidove, O., Lukacs, Z., Eugen Mengel, K., Mistry, P. K., Schuchman, E. H. & Wasserstein, M. P., Sep 1 2017, In : Genetics in Medicine. 19, 9, p. 967-974 8 p.

Research output: Contribution to journalArticle

Type A Niemann-Pick Disease
Guidelines
Acids
Lysosomal Storage Diseases
Sphingomyelin Phosphodiesterase

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

Maiorana, A. & Dionisi-Vici, C., Jul 1 2017, In : Journal of Inherited Metabolic Disease. 40, 4, p. 531-542 12 p.

Research output: Contribution to journalArticle

Hypoglycemia
Channelopathies
Intellectual Disability
Therapeutics
Pharmacology

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG

Palmigiano, A., Bua, R. O., Barone, R., Rymen, D., Régal, L., Deconinck, N., Dionisi-Vici, C., Fung, C. W., Garozzo, D., Jaeken, J. & Sturiale, L., Jun 1 2017, In : Journal of Mass Spectrometry. 52, 6, p. 372-377 6 p.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Glycosylation
Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry
serums
disorders
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Hendriksz, C. J., Anheim, M., Bauer, P., Bonnot, O., Chakrapani, A., Corvol, J. C., de Koning, T. J., Degtyareva, A., Dionisi-Vici, C., Doss, S., Duning, T., Giunti, P., Iodice, R., Johnston, T., Kelly, D., Klünemann, H. H., Lorenzl, S., Padovani, A., Pocovi, M., Synofzik, M. & 7 others, Terblanche, A., Then Bergh, F., Topçu, M., Tranchant, C., Walterfang, M., Velten, C. & Kolb, S. A., May 4 2017, In : Current Medical Research and Opinion. 33, 5, p. 877-890 14 p.

Research output: Contribution to journalArticle

Metabolic Diseases
Type C Niemann-Pick Disease
Progressive Supranuclear Palsy
Consanguinity
Frontotemporal Dementia

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

Deodato, F., Procopio, E., Rampazzo, A., Taurisano, R., Donati, M. A., Dionisi-Vici, C., Caciotti, A., Morrone, A. & Scarpa, M., Oct 1 2017, In : Metabolic Brain Disease. 32, 5, p. 1529-1536 8 p.

Research output: Contribution to journalArticle

GM1 Gangliosidosis
Disease Progression
Enzyme activity
Therapeutics
Walking

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Piano Mortari, E., Folgiero, V., Marcellini, V., Romania, P., Bellacchio, E., D'Alicandro, V., Bocci, C., Carrozzo, R., Martinelli, D., Petrini, S., Axiotis, E., Farroni, C., Locatelli, F., Schara, U., Pilz, D. T., Jungbluth, H., Dionisi-Vici, C. & Carsetti, R., Dec 1 2017, In : Autophagy. p. 1-16 16 p.

Research output: Contribution to journalArticle

Autophagy
Adaptive Immunity
Innate Immunity
Nucleic Acids
B-Lymphocytes
2016

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Staufner, C., Lindner, M., Dionisi-Vici, C., Freisinger, P., Dobbelaere, D., Douillard, C., Makhseed, N., Straub, B. K., Kahrizi, K., Ballhausen, D., la Marca, G., Kölker, S., Haas, D., Hoffmann, G. F., Grünert, S. C. & Blom, H. J., Mar 1 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 273-283 11 p.

Research output: Contribution to journalArticle

Adenosine Kinase
Methionine
S-Adenosylhomocysteine
Liver
S-Adenosylmethionine

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Teles, E. L., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R., Kölker, S. & 1 others, Additional Individual Contributors Of The E-Imd Consortium, I. C. O. T. E-I. C., Apr 22 2016, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-12 12 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Ammonium Compounds
Age of Onset
Newborn Infant
Drug Combinations
Phytanic Acid
Peroxisomal Disorders
Atmospheric Pressure
Docosahexaenoic Acids
High performance liquid chromatography
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi-Vici, C., Christodoulou, J. & 2 others, Bertini, E. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi Vici, C., Christodoulou, J. & 2 others, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Huemer, M., Mulder-Bleile, R., Burda, P., Froese, D. S., Suormala, T., Zeev, B. B., Chinnery, P. F., Dionisi-Vici, C., Dobbelaere, D., Gökcay, G., Demirkol, M., Häberle, J., Lossos, A., Mengel, E., Morris, A. A., Niezen-Koning, K. E., Plecko, B., Parini, R., Rokicki, D., Schiff, M. & 15 others, Schimmel, M., Sewell, A. C., Sperl, W., Spiekerkoetter, U., Steinmann, B., Taddeucci, G., Trejo-Gabriel-Galán, J. M., Trefz, F., Tsuji, M., Vilaseca, M. A., von Kleist-Retzow, J. C., Walker, V., Zeman, J., Baumgartner, M. R. & Fowler, B., Jan 1 2016, In : Journal of Inherited Metabolic Disease. 39, 1, p. 115-124 10 p.

Research output: Contribution to journalArticle

Mutation
Spinal Cord Diseases
Enzymes
Ataxia
Intellectual Disability

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

Barba, C., Darra, F., Cusmai, R., Procopio, E., Dionisi Vici, C., Keldermans, L., Vuillaumier-Barrot, S., Lefeber, D. J., Guerrini, R., Parrini, E., Ashikov, A., Bordugo, A., Cantalupo, G., Casara, G., Bernardina, B. D., Falchi, M., Ferri, L., Martinelli, D., Morrone, A., Race, V. & 2 others, Rosati, A. & Souche, E., Oct 1 2016, In : Developmental Medicine and Child Neurology. 58, 10, p. 1085-1091 7 p.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Brain Diseases
Seizures
Genes
Microcephaly

Deferasirox-induced serious adverse reaction in a pediatric patient: Pharmacokinetic and pharmacogenetic analysis

Marano, M., Bottaro, G., Goffredo, B., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi-Vici, C., Clementi, E. & Falvella, F. S., Feb 1 2016, In : European Journal of Clinical Pharmacology. 72, 2, p. 247-248 2 p.

Research output: Contribution to journalArticle

Deferasirox-induced serious adverse reaction in a pediatric patient: Pharmacokinetic and pharmacogenetic analysis

Marano, M., Bottaro, G., Goffredo, B. M., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi Vici, C., Clementi, E. G. I. & Falvella, F. S., Feb 1 2016, In : European Journal of Clinical Pharmacology. 72, 2, p. 247-248 2 p.

Research output: Contribution to journalArticle

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

Polo, G., Burlina, A. P., Kolamunnage, T. B., Zampieri, M., Dionisi-Vici, C., Strisciuglio, P., Zaninotto, M., Plebani, M. & Burlina, A. B., Aug 17 2016, In : Clinical Chemistry and Laboratory Medicine. 55, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle

Sphingolipidoses
Sphingolipids
Plasmas
Type B Niemann-Pick Disease
Type A Niemann-Pick Disease

EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

Byrne, S., Jansen, L., U-King-im, J. M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi-Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W., Gershoni-Baruch, R. & 34 others, Mandel, H., Dagan, E., Raas-Rothschild, A., Barash, H., Filloux, F., Creel, D., Harris, M., Hamosh, A., Kölker, S., Ebrahimi-Fakhari, D., Hoffmann, G. F., Manchester, D., Boyer, P. J., Manzur, A. Y., Lourenco, C. M., Pilz, D. T., Kamath, A., Prabhakar, P., Rao, V. K., Rogers, R. C., Ryan, M. M., Brown, N. J., McLean, C. A., Said, E., Schara, U., Stein, A., Sewry, C., Travan, L., Wijburg, F. A., Zenker, M., Mohammed, S., Fanto, M., Gautel, M. & Jungbluth, H., Mar 1 2016, In : Brain. 139, 3, p. 765-781 17 p.

Research output: Contribution to journalArticle

Autophagy
Mutation
Agenesis of Corpus Callosum
Microcephaly
Glycogen

EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

Byrne, S., Jansen, L., U-King-im, J. M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al-Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W., Gershoni-Baruch, R. & 34 others, Mandel, H., Dagan, E., Raas-Rothschild, A., Barash, H., Filloux, F., Creel, D., Harris, M., Hamosh, A., Kölker, S., Ebrahimi-Fakhari, D., Hoffmann, G. F., Manchester, D. K., Boyer, P. J., Manzur, A. Y., Lourenco, C. M., Pilz, D., Kamath, A., Prabhakar, P., Rao, V. K., Rogers, R. C., Ryan, M. M., Brown, N., McLean, C. A., Said, E., Schara, U., Stein, A., Sewry, C., Travan, L., Wijburg, F. A., Zenker, M., Mohammed, S., Fanto, M., Gautel, M. & Jungbluth, H., Mar 1 2016, In : Brain. 139, 3, p. 765-781 17 p.

Research output: Contribution to journalArticle

Autophagy
Mutation
Agenesis of Corpus Callosum
Microcephaly
Glycogen
Metabolism
Cholesterol
Sterol Esterase
Plasmas
Biomarkers

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency

Dionisi-Vici, C., Shteyer, E., Niceta, M., Rizzo, C., Pode-Shakked, B., Chillemi, G., Bruselles, A., Semeraro, M., Barel, O., Eyal, E., Kol, N., Haberman, Y., Lahad, A., Diomedi-Camassei, F., Marek-Yagel, D., Rechavi, G., Tartaglia, M. & Anikster, Y., Jul 1 2016, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-7 7 p.

Research output: Contribution to journalArticle

Glycerolphosphate Dehydrogenase
Hypertriglyceridemia
Hepatomegaly
Mutation
Liver

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer, M., Diodato, D., Schwahn, B., Schiff, M., Bandeira, A., Benoist, J-F., Burlina, A. B., Cerone, R., Couce, M. L., Garcia-Cazorla, A., la Marca, G., Pasquini, E., Vilarinho, L., Weisfeld-Adams, J. D., Kožich, V., Blom, H. J., Baumgartner, M. R. & Dionisi-Vici, C., Dec 18 2016, In : Journal of Inherited Metabolic Disease. 40, 1, p. 21-48 28 p.

Research output: Contribution to journalArticle

Homocysteine
Vitamin B 12
Guidelines
Hydroxocobalamin
Betaine

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

Dionisi-Vici, C., Diodato, D., Torre, G., Picca, S., Pariante, R., Giuseppe Picardo, S., Di Meo, I., Rizzo, C., Tiranti, V., Zeviani, M. & De Goyet, J. D. V., Apr 1 2016, In : Brain. 139, 4, p. 1045-1051 7 p.

Research output: Contribution to journalArticle

Liver Transplantation
Transplants
Liver
Thiosulfates
Mitochondrial Diseases

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

Dionisi Vici, C., Diodato, D., Torre, G., Picca, S., Pariante, R., Giuseppe Picardo, S., Di Meo, I., Rizzo, C., Tiranti, V. S., Zeviani, M. & De Goyet, J. D. V., Apr 1 2016, In : Brain. 139, 4, p. 1045-1051 7 p.

Research output: Contribution to journalArticle

Liver Transplantation
Transplants
Liver
Thiosulfates
Mitochondrial Diseases

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E. S., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., Van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., Van Der Knaap, M. S. & Bertini, E., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases

MRI and 1H-MRS in adenosine kinase deficiency

Staufner, C., Blom, H. J., Dionisi-Vici, C., Freisinger, P., Makhseed, N., Ballhausen, D., Kölker, S., Hoffmann, G. F. & Harting, I., Mar 18 2016, (Accepted/In press) In : Neuroradiology. p. 1-7 7 p.

Research output: Contribution to journalArticle

Adenosine Kinase
Choline
Pyramidal Tracts
Muscle Hypotonia
Creatine