Inherited metabolic rare disease

Advances in Experimental Medicine and Biology

Volumn 686, Issue , 2010, Pages 397-431

  Pampols, Teresa ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Diagnosis; Incidence; Inherited metabolic disorders; Populationbased screening; Prevention

Indexed keywords

GENE PRODUCT;

ACIDEMIA; ARTICLE; DISEASE CONTROL; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; ENVIRONMENTAL FACTOR; EPIGENETICS; FATTY ACID OXIDATION; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC SCREENING; HEREDITY; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; LYSOSOME STORAGE DISEASE; NEWBORN SCREENING; PRIORITY JOURNAL; RARE DISEASE; RISK FACTOR; TANDEM MASS SPECTROMETRY; UREA CYCLE DISORDER; FEMALE; GENETICS; HETEROZYGOTE DETECTION; MALE; MUTATION; NEWBORN; REVIEW;

FEMALE; GENE EXPRESSION; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; RARE DISEASES;

EID: 79952062168     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-90-481-9485-8_23     Document Type: Article

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