A. Baldellou

发表

Hipoglucemias de causa metabólica

A. Baldellou, María Paz Ruiz-Echarri, 2004 .

[Acute presentation of leukodystrophy due to mitochondrial cytopathology and multiple deletions of mitochondrial DNA].

J. Montoya, A. Playán, J. López-Pisón, 1998, Revista de neurologia.

Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population

M. Martínez-Pardo, M. Ugarte, M. Couce, 1997, European journal of human genetics : EJHG.

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

P. Sanjurjo, M. Montejo, A. Baldellou, 2008, Anales del sistema sanitario de Navarra.

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

Haruki Nakamura, C. Pérez-Cerdá, M. Ugarte, 2002, Molecular genetics and metabolism.

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

I. Krantz, M. Deardorff, B. Puisac, 2010, American journal of medical genetics. Part A.

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

M. Couce, A. De la vega, L. Aldámiz-Echevarría, 2010, Anales de pediatria.

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

R. Wanders, A. Ribes, P. Briones, 1996, Pediatric neurology.

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

P. Kaplan, J. Charrow, G. Andria, 2004, European Journal of Pediatrics.

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

P. Kaplan, K. McHugh, J. Charrow, 2004, European Journal of Pediatrics.

Health-related quality of life in children and adolescents living with Gaucher disease and their parents

E. Remor, A. Baldellou, 2018, Health psychology and behavioral medicine.

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

M. Martínez-Pardo, M. Ugarte, A. Gámez, 1999, European Journal of Human Genetics.

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

F. Sánchez-Jiménez, A. Ribes, L. Vilarinho, 2010, Clinical genetics.

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

C. Pérez-Cerdá, A. Ribes, A. Messeguer, 2009, Clinical biochemistry.

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

L. Vilarinho, D. Grinberg, S. Balcells, 2003, Human mutation.

[Demand for neuropediatric care in a regional general hospital. V. Complementary tests].

J. L. Peña-Segura, J. López-Pisón, A. Baldellou, 1998, Revista de neurologia.

Insulin-Like Growth Factors in Childhood-Onset Gaucher Disease

Á. Ferrández, M. Pocovi, P. Giraldo, 2002, Pediatric Research.

Cord blood IGE versus family history as atopic predictors in the newborn

A. Baldellou, A. Guallar, J. Bone, 1994, Acta paediatrica.

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

J. L. Peña-Segura, J. López-Pisón, A. Baldellou, 1997, Revista de neurologia.

[A study of the demand for neuropediatric services in a general hospital. II. Reasons for consultation].

J. L. Peña-Segura, J. López-Pisón, A. Baldellou, 1997, Revista de neurologia.

[Demand for neuropediatric services at a general referral hospital. IV. Psychomotor development and physical examination].

M. P. Lobera, J. L. Peña-Segura, J. López-Pisón, 1997, Revista de neurología (Ed. impresa).

Synaptosomal development in rats from phenylketonuric mothers

J. Enríquez, M. López-Pérez, M. P. Sanz-Moncasi, 1996, Journal of Inherited Metabolic Disease.