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Items: 40

1.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ.

Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2.

2.

Liver transplantation in children with propionic acidaemia - medium term outcomes.

Curnock R, Heaton ND, Vilca-Melendez H, Dhawan A, Hadzic N, Vara R.

Liver Transpl. 2019 Nov 12. doi: 10.1002/lt.25679. [Epub ahead of print]

PMID:
31715057
3.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

4.

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
5.

Tranexamic Acid in Civilian Trauma Care in the California Prehospital Antifibrinolytic Therapy Study.

Neeki MM, Dong F, Toy J, Vaezazizi R, Powell J, Wong D, Mousselli M, Rabiei M, Jabourian A, Niknafs N, Burgett-Moreno M, Vara R, Kissel S, Luo-Owen X, O'Bosky KR, Ludi D, Sporer K, Pennington T, Lee T, Borger R, Kwong E.

West J Emerg Med. 2018 Nov;19(6):977-986. doi: 10.5811/westjem.2018.8.39336. Epub 2018 Sep 10.

6.

Liver transplantation for neonatal-onset citrullinemia.

Vara R, Dhawan A, Deheragoda M, Grünewald S, Pierre G, Heaton ND, Vilca-Melendez H, Hadžić N.

Pediatr Transplant. 2018 Jun;22(4):e13191. doi: 10.1111/petr.13191. Epub 2018 May 3.

PMID:
29726081
7.

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
8.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

9.

Efficacy and Safety of Tranexamic Acid in Prehospital Traumatic Hemorrhagic Shock: Outcomes of the Cal-PAT Study.

Neeki MM, Dong F, Toy J, Vaezazizi R, Powell J, Jabourian N, Jabourian A, Wong D, Vara R, Seiler K, Pennington TW, Powell J, Yoshida-McMath C, Kissel S, Schulz-Costello K, Mistry J, Surrusco MS, O'Bosky KR, Van Stralen D, Ludi D, Sporer K, Benson P, Kwong E, Pitts R, Culhane JT, Borger R.

West J Emerg Med. 2017 Jun;18(4):673-683. doi: 10.5811/westjem.2017.2.32044. Epub 2017 Apr 19.

10.

Cardiac manifestations of inherited metabolic disease in children.

Lloyd DF, Vara R, Mathur S.

Pediatr Int. 2017 May;59(5):525-529. doi: 10.1111/ped.13272. Review.

PMID:
28258649
11.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Jones SA, Rojas-Caro S, Quinn AG, Friedman M, Marulkar S, Ezgu F, Zaki O, Gargus JJ, Hughes J, Plantaz D, Vara R, Eckert S, Arnoux JB, Brassier A, Le Quan Sang KH, Valayannopoulos V.

Orphanet J Rare Dis. 2017 Feb 8;12(1):25. doi: 10.1186/s13023-017-0587-3.

12.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW.

Am J Hum Genet. 2016 Dec 1;99(6):1405. doi: 10.1016/j.ajhg.2016.11.001. No abstract available.

13.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.

Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1405.

14.

Accuracy of Perceived Estimated Travel Time by EMS to a Trauma Center in San Bernardino County, California.

Neeki MM, MacNeil C, Toy J, Dong F, Vara R, Powell J, Pennington T, Kwong E.

West J Emerg Med. 2016 Jul;17(4):418-26. doi: 10.5811/westjem.2016.5.29809. Epub 2016 Jun 21.

15.

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
16.

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
17.

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
18.

Neonatal screening for hereditary tyrosinaemia: are we there yet?

Hadžić N, Vara R.

Arch Dis Child. 2015 Aug;100(8):720-1. doi: 10.1136/archdischild-2015-308265. Epub 2015 May 8. No abstract available.

PMID:
25957320
19.

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, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
20.

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

Kölker S, Garcia-Cazorla A, 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):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
21.

Infant case of lysosomal acid lipase deficiency: Wolman's disease.

Sadhukhan M, Saha A, Vara R, Bhaduri B.

BMJ Case Rep. 2014 May 15;2014. pii: bcr2013202652. doi: 10.1136/bcr-2013-202652.

22.

The times they are a-changin'.

Hadžić N, Vara R.

Liver Transpl. 2014 Jan;20(1):1-3. doi: 10.1002/lt.23802. No abstract available.

23.

Childhood hepatocellular carcinoma: a clinicopathological study of 12 cases with special reference to EpCAM.

Zen Y, Vara R, Portmann B, Hadzic N.

Histopathology. 2014 Apr;64(5):671-82. doi: 10.1111/his.12312. Epub 2013 Dec 2.

PMID:
24138022
24.

[Non-surgical approach for symptomatic fibroids. Physical methods: selective embolization].

Tarriel JE, Moreno CS, Ajenjo MC, Vara RG.

Med Clin (Barc). 2013 Jul;141 Suppl 1:17-21. doi: 10.1016/S0025-7753(13)70048-4. Review. Spanish.

PMID:
24314563
25.

Inappropriate use of urinary catheters in patients admitted to medical wards in a university hospital.

Fernández-Ruiz M, Calvo B, Vara R, Villar RN, Aguado JM.

Enferm Infecc Microbiol Clin. 2013 Oct;31(8):523-5. doi: 10.1016/j.eimc.2013.02.013. Epub 2013 Apr 17.

PMID:
23601704
26.

Fumarase deficiency associated with noninflammatory biliary atresia.

Vara R, Grammatikopoulos T, Gallagher C, Agalou S, Zen Y, Davenport M, Hadzic N.

J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e32-4. doi: 10.1097/MPG.0b013e31826f7526. No abstract available.

PMID:
22922375
27.

Liver transplantation for propionic acidemia in children.

Vara R, Turner C, Mundy H, Heaton ND, Rela M, Mieli-Vergani G, Champion M, Hadzic N.

Liver Transpl. 2011 Jun;17(6):661-7. doi: 10.1002/lt.22279.

28.

A single center experience of donation after cardiac death liver transplantation in pediatric recipients.

Bartlett A, Vara R, Muiesan P, Mariott P, Dhawan A, Mieli-Vergani G, Rela M, Heaton N.

Pediatr Transplant. 2010 May;14(3):388-92. doi: 10.1111/j.1399-3046.2009.01206.x.

PMID:
20519017
29.

Old versus new antiepileptic drugs: the SANAD study.

Hadzić N, Vara R, Raiman J, Mieli-Vergani G.

Lancet. 2007 Jul 28;370(9584):315; author reply 315-6. No abstract available.

PMID:
17662873
30.

Leukaemia presenting with fulminant hepatic failure in a child.

Kader A, Vara R, Egberongbe Y, Height S, Dhawan A.

Eur J Pediatr. 2004 Oct;163(10):628-9. No abstract available.

PMID:
15290266
31.

[Retrorectal schwannoma].

Astruc A, Morales OI, Aneiros J, Carvia R, Vara R.

Rev Esp Enferm Dig. 1996 Feb;88(2):161-3. Spanish. No abstract available.

PMID:
8664076
32.

Measurement of parathyrin in blood from thyroid veins: two radioimmunoassays compared in patients with primary hyperparathyroidism.

Muñoz-Torres M, Diaz J, Escobar-Jimenez F, Gonzalez-Calvin G, Vara C, Ruiz Requena ME, Vara R, Morales I.

Clin Chem. 1988 Oct;34(10):2148-50. Erratum in: Clin Chem 1988 Nov;34(11):2370.

33.

[Echinococcal cysts of the heart. Report on 4 cases of heart echinococcosis].

Vara R, Thorbeck CV.

Chirurg. 1974 Apr;45(4):190-2. German. No abstract available.

PMID:
4837349
34.

[Echinococcal cysts in the peripheral nerves].

Vara R, Vara C, Carranza G.

Zentralbl Chir. 1973 Jan 26;98(4):128-31. German. No abstract available.

PMID:
4348155
35.

[Effects of lumbar sympathectomy as determinated by electromagnetic rheometry].

Vara R, Vara-Thorbeck R, Carranza Albarran G.

Zentralbl Chir. 1972 Dec 9;97(49):1751-7. German. No abstract available.

PMID:
4662926
36.

[Arteriovenous aneurysms of the spleen vessels with portal hypertension].

Vara R, Arcelsus I, Aguirre C.

Chirurg. 1966 Oct;37(10):452-6. German. No abstract available.

PMID:
5928971
37.

[ON THE SO-CALLED "LATEROCERVICAL ABERRANT THYROID TUMORS". (LYMPH-NODE METASTASES OF CONFIRMED THYROID TUMORS)].

VARA R, ARCELUS I, AGUIRRE C.

Med Esp. 1964 Mar;51:271-89. Spanish. No abstract available.

PMID:
14153595
38.

[Changes in brain circulation after extirpation of the glomus caroticum and denervation of the carotid sinus].

VARA R, SASTRE M.

Klin Wochenschr. 1961 Dec 15;39:1286-8. German. No abstract available.

PMID:
13924800
39.

[The electroencephalogram (EEG) in insulin shock therapy].

SOLIS J, VARA R.

Nervenarzt. 1957 Aug 20;28(8):373-5. German. No abstract available.

PMID:
13517419
40.

[EEG during anesthesia; hibernation].

VARA R, SASTRE M.

Chirurg. 1955 May;26(5):229-33. English, German. No abstract available.

PMID:
14390673

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