Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 62

1.

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.

2.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group.

Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.

3.

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Rivera H, Hernández-Laín A, Coca-Robinot D, Fernández-Toral J, Arenas J, Martín MA, Martínez-Azorín F.

Pediatr Dev Pathol. 2017 Sep-Oct;20(5):416-420. doi: 10.1177/1093526616686439. Epub 2017 Jan 25.

PMID:
28812460
4.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.

JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29.

5.

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. No abstract available.

PMID:
28600669
6.

Understanding mitochondrial diseases.

García-Silva MT, Martín MA, Morán M.

Clin Nutr. 2017 Jun;36(3):902. doi: 10.1016/j.clnu.2017.03.013. Epub 2017 Mar 16. No abstract available.

PMID:
28343800
7.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. Erratum in: J Inherit Metab Dis. 2017 Jun 9;:.

PMID:
28341975
8.

Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

Martínez R, Gutierrez-Nogués Á, Fernández-Ramos C, Velayos T, Vela A; Spanish Congenital Hyperinsulinism Group, Navas MÁ, Castaño L.

Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.

PMID:
28247534
9.

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1.

PMID:
27904153
10.

[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
11.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

Martín-Hernández E, Rodríguez-García ME, Camacho A, Matilla-Dueñas A, García-Silva MT, Quijada-Fraile P, Corral-Juan M, Tejada-Palacios P, de Las Heras RS, Arenas J, Martín MA, Martínez-Azorín F.

Neurogenetics. 2016 Oct;17(4):259-263. Epub 2016 Sep 28.

PMID:
27679995
12.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group, Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G.

Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30.

PMID:
27374853
13.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

Martín MÁ, García-Silva MT, Barcia G, Delmiro A, Rodríguez-García ME, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C, Martínez-Azorín F.

Clin Genet. 2017 Jan;91(1):46-53. doi: 10.1111/cge.12815. Epub 2016 Jul 4.

PMID:
27256614
14.

Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.

Fiuza-Luces C, Santos-Lozano A, García-Silva MT, Martín-Hernández E, Quijada-Fraile P, Marín-Peiró M, Campos P, Arenas J, Lucía A, Martín MA, Morán M.

Clin Nutr. 2016 Dec;35(6):1484-1489. doi: 10.1016/j.clnu.2016.03.024. Epub 2016 Apr 7.

PMID:
27105558
15.

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Hernández-Laín A, Coca-Robinot D, Rivera H, Fernández-Toral J, Arenas J, Martín M, Martínez-Azorín F.

Pediatr Dev Pathol. 2016 Feb 29. [Epub ahead of print]

PMID:
26925861
16.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

Rodríguez-García ME, Martín-Hernández E, de Aragón AM, García-Silva MT, Quijada-Fraile P, Arenas J, Martín MA, Martínez-Azorín F.

Neurogenetics. 2016 Jan;17(1):51-6. doi: 10.1007/s10048-015-0463-z. Epub 2015 Oct 7.

PMID:
26445863
17.

[Atypical presentation and delayed diagnosis in a case of primary bile acid synthesis disorder].

Garfia Castillo C, Manzanares López-Manzanares J, García Silva MT.

Med Clin (Barc). 2015 Dec 21;145(12):e39-40. doi: 10.1016/j.medcli.2015.04.002. Epub 2015 May 26. Spanish. No abstract available.

PMID:
26021572
18.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R.

Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2.

19.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C.

Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4.

20.

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F.

Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10.

PMID:
24105702
21.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R, Arenas J, Martín MA, Martínez-Azorín F.

BMC Nephrol. 2013 Sep 13;14:195. doi: 10.1186/1471-2369-14-195.

22.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.

PMID:
23707711
23.

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.

Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, García-Silva M, Pérez-Cerdá C, Baro-Fernández M, Pérez-Alonso V, Vivanco J.

JIMD Rep. 2012;6:73-8. doi: 10.1007/8904_2012_137. Epub 2012 Mar 21.

24.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Review.

PMID:
22121851
25.

Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.

Martín-Jiménez R, Martín-Hernández E, Cabello A, García-Silva MT, Arenas J, Campos Y.

Mitochondrion. 2012 Mar;12(2):288-93. doi: 10.1016/j.mito.2011.10.004. Epub 2011 Nov 7.

PMID:
22094595
26.

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Carreño O, García-Silva MT, García-Campos Ó, Martínez-de Aragón A, Cormand B, Macaya A.

Headache. 2011 Nov-Dec;51(10):1542-6. doi: 10.1111/j.1526-4610.2011.02014.x.

PMID:
22082423
27.

[Epidemiological study of the metabolic diseases with homocystinuria in Spain].

García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, García-Cazorla A, Gómez-López L, Giner CP, Luengo OA, Peña Quintana L, Couce ML, Martínez-Pardo M, Lambruschini N.

An Pediatr (Barc). 2012 Mar;76(3):133-9. doi: 10.1016/j.anpedi.2011.08.008. Epub 2011 Nov 1. Spanish.

28.

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.

Arredondo JJ, Gallardo ME, García-Pavía P, Domingo V, Bretón B, García-Silva MT, Sedano MJ, Martín MA, Arenas J, Cervera M, Garesse R, Bornstein B.

Mitochondrion. 2012 Mar;12(2):357-62. doi: 10.1016/j.mito.2011.09.010. Epub 2011 Oct 1.

PMID:
21986556
29.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PMID:
21752405
30.

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M, Artuch R.

Mitochondrion. 2011 Nov;11(6):867-70. doi: 10.1016/j.mito.2011.06.009. Epub 2011 Jul 2.

PMID:
21745599
31.

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Navarro-Sastre A, García-Silva MT, Martín-Hernández E, Lluch M, Briones P, Ribes A.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S293-6. doi: 10.1007/s10545-010-9155-x. Epub 2010 Jul 8.

PMID:
20614188
32.

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan Mdel M, Quijada P, Martinez-Aragón A, Ormazábal A, Blázquez A, Martín MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch R, Pineda M.

Mitochondrion. 2010 Aug;10(5):429-32. doi: 10.1016/j.mito.2010.04.001. Epub 2010 Apr 11.

PMID:
20388557
33.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group.

Clin Genet. 2010 May;77(5):474-82. doi: 10.1111/j.1399-0004.2009.01313.x. Epub 2009 Dec 10. Erratum in: Clin Genet. 2010 Jul;78(1):101.

PMID:
20002461
34.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9.

PMID:
19924563
35.

[Brain creatine defects: how can these uncommon diseases be diagnosed and their evolution changed].

García Silva MT.

Med Clin (Barc). 2009 Nov 21;133(19):752-3. doi: 10.1016/j.medcli.2009.09.007. Epub 2009 Nov 2. Spanish. No abstract available.

PMID:
19880147
36.

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group.

Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107.

PMID:
19760748
37.

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

Gil-Borlado MC, González-Hoyuela M, Blázquez A, García-Silva MT, Gabaldón T, Manzanares J, Vara J, Martín MA, Seneca S, Arenas J, Ugalde C.

Mitochondrion. 2009 Sep;9(5):299-305. doi: 10.1016/j.mito.2009.04.001. Epub 2009 Apr 21.

PMID:
19389488
38.

[Molybdenum cofactor deficiency as a cause of early epileptic encephalopathy].

Palacios Cuesta A, García Silva MT, Sánchez Del Pozo J, Nogales Espert A, Puche Mira A, Ugarte Pérez M.

An Pediatr (Barc). 2008 Aug;69(2):187-9. Spanish. No abstract available.

39.

Mitochondrial diseases associated with cerebral folate deficiency.

Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT.

Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. No abstract available.

PMID:
18413591
40.

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, García-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G.

Hum Mol Genet. 2007 Apr 1;16(7):717-30. Epub 2007 Jan 12.

PMID:
17220172
41.

Macrophagic myofasciitis in childhood: a controversial entity.

Rivas E, Gómez-Arnáiz M, Ricoy JR, Mateos F, Simón R, García-Peñas JJ, Garcia-Silva MT, Martín E, Vázquez M, Ferreiro A, Cabello A.

Pediatr Neurol. 2005 Nov;33(5):350-6.

PMID:
16243223
42.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

Perez-Cerda C, García-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, García-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A.

Pediatr Res. 2005 Sep;58(3):488-91. Erratum in: Pediatr Res. 2006 Jan;59(1):162. Perez-Cerda, Celia [added]; Ribes, Antonia [added].

PMID:
16148061
43.

Renal pathology in children with mitochondrial diseases.

Martín-Hernández E, García-Silva MT, Vara J, Campos Y, Cabello A, Muley R, Del Hoyo P, Martín MA, Arenas J.

Pediatr Nephrol. 2005 Sep;20(9):1299-305. Epub 2005 Jun 24.

PMID:
15977024
44.

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

García-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P.

J Inherit Metab Dis. 2004;27(5):591-600.

PMID:
15669674
45.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M.

Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19.

46.

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

Wopereis S, Grünewald S, Morava E, Penzien JM, Briones P, García-Silva MT, Demacker PN, Huijben KM, Wevers RA.

Clin Chem. 2003 Nov;49(11):1839-45.

47.

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, García Silva MT, Hernandez EM, Lissens W, Van Coster R.

Am J Med Genet A. 2003 Aug 30;121A(2):126-31.

PMID:
12910490
48.

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

Briones P, Vilaseca MA, García-Silva MT, Pineda M, Colomer J, Ferrer I, Artigas J, Jaeken J, Chabás A.

Eur J Paediatr Neurol. 2001;5(3):127-31.

PMID:
11589167
49.
50.

[Treatment of generalized peroxisomal disorders with docosahexaenoic acid ethyl ether].

Martínez M, Vázquez E, García-Silva MT, Beltrán JM, Castelló F, Pineda M, Mougan I.

Rev Neurol. 1999 Jan;28 Suppl 1:S59-64. Spanish.

PMID:
10778491

Supplemental Content

Loading ...
Support Center