Detalhe da pesquisa
1.
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Clin Genet
; 91(1): 46-53, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27256614
2.
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.
Br J Dermatol
; 166(4): 830-8, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22121851
3.
Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.
J Inherit Metab Dis
; 40(5): 751-752, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28466427
4.
Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.
J Inherit Metab Dis
; 32(4): 523-33, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19629744
5.
[Congenital disorder of glycosylation type 1b. Experience with mannose treatment]. / Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa.
An Pediatr (Barc)
; 69(4): 358-65, 2008 Oct.
Artigo
Espanhol
| MEDLINE | ID: mdl-18928705
6.
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
JIMD Rep
; 39: 63-74, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-28755359
7.
Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.
Clin Nutr
; 35(6): 1484-1489, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27105558
8.
Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Hospital Universitario 12 de Octubre / Mitochondrial Disease and Hereditaru Metabolic Disease Unit. Pediatric Department. University Hospital 12 de Octubre
Rev. esp. pediatr. (Ed. impr.)
; 73(1): 41-45, ene.-feb. 2017. tab, ilus
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-162522
9.
Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.
JIMD Rep
; 6: 73-8, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23430942
10.
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
J Inherit Metab Dis
; 29(5): 685, 2006 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-16906473
11.
[Vesical uric acid lithiasis in a child with renal hypouricemia]. / Litiasis vesical por ácido úrico en un niño con hipouricemia renal.
An Esp Pediatr
; 55(3): 273-6, 2001 Sep.
Artigo
Espanhol
| MEDLINE | ID: mdl-11676906
12.
[Urethrocystography in children. Practical considerations of irradiation doses]. / Uretrocistografía en niños. Consideraciones prácticas en relación con las dosis de irradiación.
An Esp Pediatr
; 48(4): 363-7, 1998 Apr.
Artigo
Espanhol
| MEDLINE | ID: mdl-9629792
13.
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
J Inherit Metab Dis
; 27(5): 591-600, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15669674
14.
Síndromes de Pearson y de Kearns-Sayre: dos enfermedades mitocondriales multisistémicas, debidas a deleciones en el ADN mitocondrial / Pearson and Kearns-Sayre syndromes: two multisystem mitochondrial diseases caused by mitochondrial DNA deletions
Acta pediatr. esp
; 68(9): 451-459, oct. 2010. tab, graf, ilus
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-83232
15.
Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica / Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes
An. pediatr. (2003, Ed. impr.)
; 73(5): 257-263, nov. 2010. tab, ilus
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-83262
16.
Acyclovir prophylaxis of varicella in children with nephrotic syndrome.
Pediatr Nephrol
; 15(3-4): 326-7, 2000 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11149133
17.
[Campylobacter jejuni infection in the neonatal period. A potentially serious condition]. / Infección por Campylobacter jejuni en el período neonatal. Un cuadro potencialmente severo.
An Esp Pediatr
; 38(2): 187-9, 1993 Feb.
Artigo
Espanhol
| MEDLINE | ID: mdl-8439109
18.
[Acute interstitial nephritis associated with streptococcal infection]. / Nefritis intersticial aguda asociada a infección estreptocócica.
An Esp Pediatr
; 35(4): 276-8, 1991 Oct.
Artigo
Espanhol
| MEDLINE | ID: mdl-1763860
19.
Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa / Congenital disorder of glycosylation type 1b. Experience with mannose treatment
An. pediatr. (2003, Ed. impr.)
; 69(4): 358-365, oct. 2008. ilus, tab
Artigo
Es
| IBECS (Espanha) | ID: ibc-67689
20.
Enfermedades congénitas del metabolismo en el periodo neonatal (I). Generalidades / Inborn errors of metabolism during the neonatal period (I). General aspects
Acta pediatr. esp
; 64(8): 391-395, sept. 2006. tab
Artigo
Es
| IBECS (Espanha) | ID: ibc-049992