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Items: 1 to 50 of 229

1.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M.

Mol Genet Metab. 2018 Nov 29. pii: S1096-7192(18)30593-6. doi: 10.1016/j.ymgme.2018.11.014. [Epub ahead of print] Review.

2.

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

Ponzi E, Maiorana A, Lepri FR, Mucciolo M, Semeraro M, Taurisano R, Olivieri G, Novelli A, Dionisi-Vici C.

J Pediatr. 2018 Nov;202:272-278.e4. doi: 10.1016/j.jpeds.2018.06.050. Epub 2018 Sep 5.

PMID:
30193751
3.

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

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Alcalde Martin C, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2018 Sep 3. doi: 10.1007/s10545-018-0238-4. [Epub ahead of print]

PMID:
30178268
4.

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

Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C.

Clin Chim Acta. 2018 Nov;486:387-394. doi: 10.1016/j.cca.2018.08.039. Epub 2018 Aug 25.

PMID:
30153451
5.

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.

Neurology. 2018 Sep 18;91(12):565-567. doi: 10.1212/WNL.0000000000006209. Epub 2018 Aug 17. No abstract available.

PMID:
30120134
6.

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.

Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. No abstract available.

PMID:
30113620
7.

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

Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul 4. doi: 10.1007/s10545-018-0222-z. [Epub ahead of print]

PMID:
29974348
8.

Newborn screening for homocystinurias: recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner C, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2018 Jun 15. doi: 10.1007/s10545-018-0213-0. [Epub ahead of print]

PMID:
29943221
9.

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.

Hum Mol Genet. 2018 May 14. doi: 10.1093/hmg/ddy183. [Epub ahead of print]

PMID:
29767723
10.

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.

Clin Chim Acta. 2018 Jun;481:156-160. doi: 10.1016/j.cca.2018.03.002. Epub 2018 Mar 10.

PMID:
29534959
11.

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

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

12.

Correction to: 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, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.

PMID:
29330779
13.

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 DT, Jungbluth H, Dionisi-Vici C, Carsetti R.

Autophagy. 2018;14(1):22-37. doi: 10.1080/15548627.2017.1389356. Epub 2018 Jan 2.

14.

NTBC and Correction of Renal Dysfunction.

Maiorana A, Dionisi-Vici C.

Adv Exp Med Biol. 2017;959:93-100. doi: 10.1007/978-3-319-55780-9_8. Review.

PMID:
28755187
15.

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.

Maiorana A, Dionisi-Vici C.

J Inherit Metab Dis. 2017 Jul;40(4):531-542. doi: 10.1007/s10545-017-0059-x. Epub 2017 Jun 27. Review.

PMID:
28656511
16.

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

Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M.

Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.

PMID:
28577204
17.

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

Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB.

Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17.

PMID:
28526534
18.

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

Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L.

J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936.

PMID:
28444691
19.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP.

Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Review.

20.

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

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
21.

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.

Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R.

Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26.

22.

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 JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. Review.

23.

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R.

J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26.

PMID:
27785568
24.

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

Ferri L, Dionisi-Vici C, Taurisano R, Vaz FM, Guerrini R, Morrone A.

Clin Genet. 2016 Nov;90(5):461-465. doi: 10.1111/cge.12756. Epub 2016 Mar 4.

PMID:
26853223
25.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E.

Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22.

26.

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

Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB.

Clin Chem Lab Med. 2017 Mar 1;55(3):403-414. doi: 10.1515/cclm-2016-0340.

27.

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.

J Inherit Metab Dis. 2016 Sep;39(5):689-695. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1.

PMID:
27368975
29.

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 DJ, Guerrini R; CDG Group.

Dev Med Child Neurol. 2016 Oct;58(10):1085-91. doi: 10.1111/dmcn.13141. Epub 2016 May 13.

30.

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 EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22. Erratum in: J Inherit Metab Dis. 2018 Jan 12;:.

PMID:
27106216
31.

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 EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R.

Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25.

PMID:
27102574
32.

MRI and (1)H-MRS in adenosine kinase deficiency.

Staufner C, Blom HJ, Dionisi-Vici C, Freisinger P, Makhseed N, Ballhausen D, Kölker S, Hoffmann GF, Harting I.

Neuroradiology. 2016 Jul;58(7):697-703. doi: 10.1007/s00234-016-1676-z. Epub 2016 Mar 18.

PMID:
26993811
33.

Vici syndrome: a review.

Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H.

Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Review.

34.

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 Ville De Goyet J.

Brain. 2016 Apr;139(Pt 4):1045-51. doi: 10.1093/brain/aww013. Epub 2016 Feb 25.

PMID:
26917598
35.

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

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, 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 KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

36.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, 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 SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E.

Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29.

PMID:
26912632
37.

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

Martinelli D, Bernardi B, Napolitano A, Colafati GS, Dionisi-Vici C.

Neurology. 2016 Jan 19;86(3):e32-3. doi: 10.1212/WNL.0000000000002284. No abstract available.

PMID:
26783274
38.

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

Boenzi S, Deodato F, Taurisano R, Goffredo BM, Rizzo C, Dionisi-Vici C.

J Lipid Res. 2016 Mar;57(3):361-7. doi: 10.1194/jlr.M061978. Epub 2016 Jan 5.

39.

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 BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ.

J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7.

PMID:
26642971
40.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.

J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.

PMID:
26475597
41.

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

Marano M, Bottaro G, Goffredo B, Stoppa F, Pisani M, Marinaro AM, Deodato F, Dionisi-Vici C, Clementi E, Falvella FS.

Eur J Clin Pharmacol. 2016 Feb;72(2):247-8. doi: 10.1007/s00228-015-1956-2. Epub 2015 Sep 24. No abstract available.

PMID:
26403473
42.

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

Maiorana A, Manganozzi L, Barbetti F, Bernabei S, Gallo G, Cusmai R, Caviglia S, Dionisi-Vici C.

Orphanet J Rare Dis. 2015 Sep 24;10:120. doi: 10.1186/s13023-015-0342-6.

43.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E.

Eur J Hum Genet. 2016 Mar;24(3):463-6. doi: 10.1038/ejhg.2015.141. Epub 2015 Jul 15.

44.

Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

Melis D, Minopoli G, Balivo F, Marcolongo P, Parini R, Paci S, Dionisi-Vici C, Della Casa R, Benedetti A, Andria G, Parenti G.

JIMD Rep. 2016;25:39-45. Epub 2015 Jun 30.

45.

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

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. No abstract available.

PMID:
26077421
46.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
47.

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 DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.

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