Baldellou A - Search Results

1

[Inborn errors of metabolism as rare diseases with a specific global situation].

Sanjurjo P, Baldellou A, Aldámiz-Echevarría K, Montejo M, García Jiménez M. Sanjurjo P, et al. Among authors: baldellou a. An Sist Sanit Navar. 2008;31 Suppl 2:55-73. An Sist Sanit Navar. 2008. PMID: 18953372 Free article. Spanish.

2

[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. García-Jiménez MC, et al. Among authors: baldellou a. An Pediatr (Barc). 2012 Mar;76(3):133-9. doi: 10.1016/j.anpedi.2011.08.008. Epub 2011 Nov 1. An Pediatr (Barc). 2012. PMID: 22047794 Free article. Spanish.

3

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.

Desviat LR, Pérez B, García MJ, Martínez-Pardo M, Baldellou A, Arena J, Sanjurjo P, Campistol J, Couce ML, Fernández A, Cardesa J, Ugarte M. Desviat LR, et al. Among authors: baldellou a. Eur J Hum Genet. 1997 Jul-Aug;5(4):196-202. Eur J Hum Genet. 1997. PMID: 9359039

4

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M. Desviat LR, et al. Among authors: baldellou a. Eur J Hum Genet. 1999 Apr;7(3):386-92. doi: 10.1038/sj.ejhg.5200312. Eur J Hum Genet. 1999. PMID: 10234516

5

[Demand for neuropediatric services in a general referral hospital. III. Diagnosis].

López-Pisón J, Arana T, Baldellou A, Rebage V, García-Jiménez MC, Peña-Segura JL. López-Pisón J, et al. Among authors: baldellou a. Rev Neurol. 1997 Dec;25(148):1896-905. Rev Neurol. 1997. PMID: 9580291 Spanish.

6

[The treatment of congenital errors of metabolism].

Baldellou A. Baldellou A. An Esp Pediatr. 1997 Dec;47(6):563-7. An Esp Pediatr. 1997. PMID: 9575114 Spanish. No abstract available.

7

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

García-Villoria J, Navarro-Sastre A, Fons C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MA, González I, Hernández-Gonzalez A, Fernández C, Campistol J, Delpiccolo C, Cortés N, Messeguer A, Briones P, Ribes A. García-Villoria J, et al. Among authors: baldellou a. Clin Biochem. 2009 Jan;42(1-2):27-33. doi: 10.1016/j.clinbiochem.2008.10.006. Epub 2008 Oct 25. Clin Biochem. 2009. PMID: 18996107

8

[Recommendations and management of type I hereditary or hepatorenal tyrosinemia].

Couce ML, Aldámiz-Echevarría L, Baldellou A, Blasco J, Bueno MA, Dalmau J, De La Vega A, Del Toro M, Díaz C, Lama R, Leao E, Marrero M, Navas VM, Pintos G. Couce ML, et al. Among authors: baldellou a. An Pediatr (Barc). 2010 Nov;73(5):279.e1-4. doi: 10.1016/j.anpedi.2010.03.005. Epub 2010 Sep 1. An Pediatr (Barc). 2010. PMID: 20813594 Free article. Spanish.

9

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D. Urreizti R, et al. Among authors: baldellou a. Hum Mutat. 2003 Jul;22(1):103. doi: 10.1002/humu.9153. Hum Mutat. 2003. PMID: 12815602

10

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N. Fukao T, et al. Among authors: baldellou a. Mol Genet Metab. 2002 Mar;75(3):235-43. doi: 10.1006/mgme.2001.3288. Mol Genet Metab. 2002. PMID: 11914035

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

40 results

Search Page

Filters