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Items: 1 to 50 of 475

1.

Correction to: Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A.

Ital J Pediatr. 2019 Jun 11;45(1):71. doi: 10.1186/s13052-019-0665-3.

2.

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, Duro G, Tummolo A, Padoan A, Plebani M, Burlina AB.

Clin Chem Lab Med. 2019 May 15. pii: /j/cclm.ahead-of-print/cclm-2018-1301/cclm-2018-1301.xml. doi: 10.1515/cclm-2018-1301. [Epub ahead of print]

PMID:
31091195
3.

Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.

Benato A, Carecchio M, Burlina A, Paoloni F, Sartori S, Nosadini M, d'Avella D, Landi A, Antonini A.

J Neural Transm (Vienna). 2019 Jun;126(6):739-757. doi: 10.1007/s00702-019-02010-2. Epub 2019 May 10.

PMID:
31076915
4.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Apr 14. doi: 10.1002/jimd.12100. [Epub ahead of print] Review.

PMID:
30982989
5.

Predictors of Clinical Evolution in Prehypertrophic Fabry Disease.

Camporeale A, Pieroni M, Pieruzzi F, Lusardi P, Pica S, Spada M, Mignani R, Burlina A, Bandera F, Guazzi M, Graziani F, Crea F, Greiser A, Boveri S, Ambrogi F, Lombardi M.

Circ Cardiovasc Imaging. 2019 Apr;12(4):e008424. doi: 10.1161/CIRCIMAGING.118.008424.

PMID:
30943767
6.

Maternal germline mosaicism in Fabry disease.

Pianese L, Fortunato A, Silvestri S, Solano FG, Burlina A, Burlina AP, Ragno M.

Neurol Sci. 2019 Jun;40(6):1279-1281. doi: 10.1007/s10072-019-03754-1. Epub 2019 Feb 14.

PMID:
30762167
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, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, 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. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031.

PMID:
30740724
8.

The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.

Burlina AP, Lachmann RH, Manara R, Cazzorla C, Celato A, van Spronsen FJ, Burlina A.

J Inherit Metab Dis. 2019 Mar;42(2):209-219. doi: 10.1002/jimd.12065. Review.

PMID:
30690773
9.

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P.

Int J Mol Sci. 2018 Nov 23;19(12). pii: E3726. doi: 10.3390/ijms19123726.

10.

Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Review. Erratum in: Ital J Pediatr. 2019 Jun 11;45(1):71.

11.

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M.

Mol Genet Metab. 2019 Mar;126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. Epub 2018 Sep 27. Review.

12.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L.

Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0.

13.

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Manti F, Nardecchia F, Barresi S, Venditti M, Pizzi S, Hamdan FF, Blau N, Burlina A, Tartaglia M, Leuzzi V.

Parkinsonism Relat Disord. 2019 Apr;61:207-210. doi: 10.1016/j.parkreldis.2018.10.012. Epub 2018 Oct 11.

PMID:
30337205
14.

Intravenous thrombolysis for ischemic stroke in the Veneto region: the gap between eligibility and reality.

Forlivesi S, Cappellari M, Baracchini C, Viaro F, Critelli A, Tamborino C, Tonello S, Guidoni SV, Bruno M, Favaretto S, Burlina A, Turinese E, Ferracci F, Zambito Marsala S, Bazzano S, Orlando F, Turazzini M, Ricci S, Cadaldini M, De Biasia F, Bruno S, Gaudenzi A, Morra M, Danese A, L'Erario R, Russo M, Zanette G, Idone D, Basile AM, Atzori M, Masato M, Menegazzo E, Paladin F, Tonon A, Caneve G, Bozzato G, Campagnaro A, Carella S, Nicolao P, Padoan R, Perini F, De Boni A, Adami A, Bonetti B, Bovi P.

J Thromb Thrombolysis. 2019 Jan;47(1):113-120. doi: 10.1007/s11239-018-1753-8.

PMID:
30291514
15.

Malignant brain tumors in patients with glutaric aciduria type I.

Serrano Russi A, Donoghue S, Boneh A, Manara R, Burlina AB, Burlina AP.

Mol Genet Metab. 2018 Nov;125(3):276-280. doi: 10.1016/j.ymgme.2018.08.006. Epub 2018 Aug 27.

PMID:
30217722
16.

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

Reyes A, Melchionda L, Burlina A, Robinson AJ, Ghezzi D, Zeviani M.

EMBO Mol Med. 2018 Oct;10(10). pii: e8698. doi: 10.15252/emmm.201708698.

17.

Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.

Lee TH, Yang JT, Lee JD, Chang KC, Peng TI, Chang TY, Huang KL, Liu CH, Ryu SJ, Burlina AP.

Eur J Neurol. 2019 Mar;26(3):553-555. doi: 10.1111/ene.13775. Epub 2018 Sep 9.

PMID:
30103270
18.

Living with phenylketonuria in adulthood: The PKU ATTITUDE study.

Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A.

Mol Genet Metab Rep. 2018 Jul 11;16:39-45. doi: 10.1016/j.ymgmr.2018.06.007. eCollection 2018 Sep.

19.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

20.

European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.

PMID:
30017653
21.

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A.

Eur J Paediatr Neurol. 2018 Nov;22(6):1042-1053. doi: 10.1016/j.ejpn.2018.06.010. Epub 2018 Jul 3. Review.

PMID:
30005813
22.

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A.

Mol Genet Genomic Med. 2018 Apr 12. doi: 10.1002/mgg3.389. [Epub ahead of print]

23.

Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, Manna R, Politei J, Spada M, Burlina A.

Dig Liver Dis. 2018 May;50(5):429-437. doi: 10.1016/j.dld.2018.02.011. Epub 2018 Mar 1. Review.

24.

Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR.

Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review.

25.

Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.

Colomba P, Zizzo C, Alessandro R, Cammarata G, Scalia S, Giordano A, Pieroni M, Sicurella L, Amico L, Burlina A, Duro G.

Oncotarget. 2018 Jan 5;9(8):7758-7762. doi: 10.18632/oncotarget.23970. eCollection 2018 Jan 30.

26.

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B.

Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0.

27.

Food triggers and inherited metabolic disorders: a challenge to the pediatrician.

Maines E, Di Palma A, Burlina A.

Ital J Pediatr. 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2. Review.

28.

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
29.

Comorbidity, Polytherapy, and Drug Interactions in a Neurological Context: An Example of a Multidisciplinary Approach to Promote the Rational Use of Drugs.

Busa G, Burlina A, Damuzzo V, Chiumente M, Palozzo AC.

J Pharm Pract. 2018 Feb;31(1):58-65. doi: 10.1177/0897190017699138. Epub 2017 Mar 21.

PMID:
29278992
30.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
31.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

32.

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica).

Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25.

PMID:
29178011
33.

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP.

J Inherit Metab Dis. 2018 Mar;41(2):209-219. doi: 10.1007/s10545-017-0098-3. Epub 2017 Nov 15.

PMID:
29143201
34.

Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus.

Bisiacchi P, Mento G, Tarantino V, Burlina A.

Cogn Neuropsychol. 2018 May - Jun;35(3-4):200-208. doi: 10.1080/02643294.2017.1396207. Epub 2017 Nov 9. Erratum in: Cogn Neuropsychol. 2018 May - Jun;35(3-4):199.

PMID:
29117799
35.

The complete European guidelines on phenylketonuria: diagnosis and treatment.

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.

Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Review.

36.

Issues with European guidelines for phenylketonuria - Authors' reply.

van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):683-684. doi: 10.1016/S2213-8587(17)30202-4. No abstract available.

PMID:
28842159
37.

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM.

Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20.

PMID:
28726805
38.

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Liguori R, Incensi A, de Pasqua S, Mignani R, Fileccia E, Santostefano M, Biagini E, Rapezzi C, Palmieri S, Romani I, Borsini W, Burlina A, Bombardi R, Caprini M, Avoni P, Donadio V.

PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017.

39.

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.

Burlina AB, Celato A, Polo G, Edini C, Burlina AP.

EJIFCC. 2017 Mar 8;28(1):64-76. eCollection 2017 Mar.

40.

Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.

Viggiano E, Marabotti A, Politano L, Burlina A.

Clin Genet. 2018 Feb;93(2):206-215. doi: 10.1111/cge.13030. Epub 2017 Aug 9. Review.

PMID:
28374897
41.

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.

Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D.

Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x.

42.

Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults.

Poli L, Zedde M, Zini A, Del Sette M, Lodigiani C, Spalloni A, Di Lisi F, Toriello A, Piras V, Stilo C, Tomelleri G, Tancredi L, Paciaroni M, Silvestrelli G, Adami A, Costa P, Morotti A, De Giuli V, Caria F, Gamba M, Malferrari G, Simone AM, Musolino R, Giorli E, Banfi E, Marcheselli S, Rasura M, Pugliese N, Melis M, Bovi P, Padovani A, Burlina A, Pezzini A; Italian Project on Stroke in Young Adults (IPSYS) Investigators.

Eur J Neurol. 2017 Mar;24(3):e12-e14. doi: 10.1111/ene.13254. No abstract available.

PMID:
28211245
43.

Basilar Artery Changes in Fabry Disease.

Manara R, Carlier RY, Righetto S, Citton V, Locatelli G, Colas F, Ermani M, Germain DP, Burlina A.

AJNR Am J Neuroradiol. 2017 Mar;38(3):531-536. doi: 10.3174/ajnr.A5069. Epub 2017 Jan 26.

44.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Review.

PMID:
28082082
45.

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.

46.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet).

J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. Review.

47.

The galactosemia network (GalNet).

Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives.

J Inherit Metab Dis. 2017 Mar;40(2):169-170. doi: 10.1007/s10545-016-9989-y. Epub 2016 Nov 11. No abstract available.

PMID:
27837294
48.

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

Mignani R, Pieruzzi F, Berri F, Burlina A, Chinea B, Gallieni M, Pieroni M, Salviati A, Spada M.

Clin Kidney J. 2016 Oct;9(5):739-47. doi: 10.1093/ckj/sfw082. Epub 2016 Sep 9.

49.

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.

Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M.

Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9.

PMID:
27668838
50.

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann GF, Häberle J.

Orphanet J Rare Dis. 2016 Aug 19;11(1):116. doi: 10.1186/s13023-016-0493-0.

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