Diagnosis of developmental delay: the metabolic biochemist's approach
Tài liệu tham khảo
Bierman, 1964, Paediatricians assessment of the intelligence of two year olds and their mental test scores, Pediatrics, 34, 680, 10.1542/peds.34.5.680
Rossiter, 1993, The use of developmental screening and assessment instruments by paediatricians in Australia, J Paediatr Child Health, 29, 357, 10.1111/j.1440-1754.1993.tb00534.x
Palfrey, 1987, Early identification of children's special needs: A study in five metropolitan communities, J Pediatr, 11, 651, 10.1016/S0022-3476(87)80238-X
Smith, 1975, Rational diagnostic evaluation of the child with mental deficiency, Am J Dis Child, 129, 1285
Brown, 1988, Cerebral lacticacidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis, Eur J Peds, 147, 10, 10.1007/BF00442603
DeVivo, 1944, Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures and developmental delay, N Engl J Med, 325, 703, 10.1056/NEJM199109053251006
Lake, 1990, Blood, bone marrow, spleen and lymph nodes in metabolic disorders, 303
Gerrits, 1993, Cerebrospinal fluid amino acids, purine and pyrimidines as a tool in the study of Metabolic Brain Diseases, J Inher Metab Dis, 16, 670, 10.1007/BF00711899
Hoffman, 1993, Physiology and Pathophysiology of organic acids in cerebrospinal fluid, J Inher Metab Dis, 16, 648, 10.1007/BF00711898
Simmonds, 1994, Purine and pyrimidine disorders, 297
Aicardi, 1993, The Inherited Leukodystrophies: A clinical overview, J Inher Metab Dis, 16, 733, 10.1007/BF00711905
Johnson, 1992, Screening for urea cycle disorders from neonatal blood spots and integration with amino acid and fatty acid disorder screening, 57
Levy, 1993, Pediatric assessment of the child with developmental delay, Peds Clinics, 40, 465, 10.1016/S0031-3955(16)38544-3
First, 1994, The infant or young child with developmental delay, N Engl J Med, 330, 478, 10.1056/NEJM199402173300708