Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

David Torrents, Juha Mykkänen, Marta Pineda, +12

Nature Genetics

Protein FunctionSignal TransductionMedicineGeneticsNatural Sciences +3

Fatty acid composition of fertilization-failed human oocytes

Roberto Matorras, Rosario Mendoza, Norma Labra Ruíz, +2

Human Reproduction

OocyteNutritionInfertilityLipid AnalysisFertility +12

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

Belén Pérez, Alejandra Gámez, Ana M. Sánchez, +10

European Journal of Human Genetics

Mendelian DisorderBiochemistryGenetic DisorderMedicineGenetics +7

Effects of Maternal Ω‐3 Supplementation on Fatty Acids and on Visual and Cognitive Development

José Antonio Hurtado, C. Iznaola, Manuela Peña‐Caballero, +8

Journal of Pediatric Gastroenterology and Nutrition

Persistence of Essential Fatty Acid Deficiency in Cystic Fibrosis Despite Nutritional Therapy

Luis Aldámiz‐Echevarría, José Angel Prieto, Fernando Andrade, +6

Pediatric Research

NutritionMetabolic SyndromeBody CompositionLipid NutritionMedicine +8

Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density

Sergio Lage, María Bueno, Fernando Andrade, +5

Journal of Inherited Metabolic Disease

Brain Docosahexaenoic Acid Status and Learning in Young Rats Submitted to Dietary Long-Chain Polyunsaturated Fatty Acid Deficiency and Supplementation Limited to Lactation

Salvador García-Calatayud, Carlos Redondo, Eva Martín, +3

Pediatric Research

NutritionOmega-3 Fatty AcidSupplementation LimitedBrain HealthPhysiology +9

Retractile mesenteritis involving the colon: barium enema, sonographic, and CT findings

F J Pérez-Fontán, Rafaela Soler, J.L. Salinas Sánchez, +3

American Journal of Roentgenology

Polyunsaturated fatty acid status in patients with phenylketonuria

Pablo Sanjurjo, Lourdes Perteagudo, Juan Rodríguez Soriano, +2

Journal of Inherited Metabolic Disease

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Marcio Andrade‐Campos, Pilar Alfonso, Pilar Irún, +21

Orphanet Journal of Rare Diseases