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Items: 1 to 20 of 261

1.

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R.

Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8.

2.

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.

3.

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
4.

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

González MJ, Gassió R, Artuch R, Campistol J.

Semin Pediatr Neurol. 2016 Nov;23(4):332-340. doi: 10.1016/j.spen.2016.11.007. Epub 2016 Nov 9. Review.

PMID:
28284394
5.

Epilepsy in Inborn Errors of Metabolism With Therapeutic Options.

Campistol J.

Semin Pediatr Neurol. 2016 Nov;23(4):321-331. doi: 10.1016/j.spen.2016.11.006. Epub 2016 Nov 9. Review.

PMID:
28284393
6.

Creatine Defects and Central Nervous System.

Fons C, Campistol J.

Semin Pediatr Neurol. 2016 Nov;23(4):285-289. doi: 10.1016/j.spen.2016.11.003. Epub 2016 Nov 17. Review.

PMID:
28284390
7.

Introduction.

Campistol J.

Semin Pediatr Neurol. 2016 Nov;23(4):255-256. doi: 10.1016/j.spen.2016.12.001. No abstract available.

PMID:
28284387
8.

Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria.

Caprile C, Campistol J, Puigcerver L, Gutiérrez-Mata AP, Alonso-Colmenero I, Colomé R, Navarra J.

J Clin Exp Neuropsychol. 2017 Dec;39(10):931-940. doi: 10.1080/13803395.2017.1281381. Epub 2017 Feb 6.

PMID:
28165881
9.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.

Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.

10.

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
11.

[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].

Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol J, Couce ML, García-Silva MT, González Gutiérrez-Solana L, Del Toro M; Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP).

Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Spanish.

PMID:
27816186
12.

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla À, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R, Armstrong J; Working Group.

PLoS One. 2016 May 31;11(5):e0156359. doi: 10.1371/journal.pone.0156359. eCollection 2016.

13.

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

Campistol J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado M, Garcia Cazorla A, Lozano R, Artuch R.

Dev Med Child Neurol. 2016 Aug;58(8):842-7. doi: 10.1111/dmcn.13114. Epub 2016 Mar 31.

14.

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia-Cazorla A, Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C.

PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016. Erratum in: PLoS One. 2016;11(5):e0155172.

15.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.

Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.

16.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

17.

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW.

Front Genet. 2015 Jul 28;6:254. doi: 10.3389/fgene.2015.00254. eCollection 2015.

18.

Treatable newborn and infant seizures due to inborn errors of metabolism.

Campistol J, Plecko B.

Epileptic Disord. 2015 Sep;17(3):229-42. doi: 10.1684/epd.2015.0754. Review.

19.

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.

Vallejo-Torres L, Castilla I, Couce ML, Pérez-Cerdá C, Martín-Hernández E, Pineda M, Campistol J, Arrospide A, Morris S, Serrano-Aguilar P.

Pediatrics. 2015 Aug;136(2):e424-32. doi: 10.1542/peds.2014-3399. Epub 2015 Jul 13.

20.

Selective elimination of mitochondrial mutations in the germline by genome editing.

Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, Del Mar O'Callaghan M, Campistol J, Zhao H, Campistol JM, Moraes CT, Izpisua Belmonte JC.

Cell. 2015 Apr 23;161(3):459-469. doi: 10.1016/j.cell.2015.03.051.

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