Serum carnosinase deficiency: a non-disabling phenotype?
暂无分享,去创建一个
[1] Hiroshi Takahashi. Studies on homocarnosine in cerebrospinal fluid in infancy and childhood. Part I. Homocarnosine level in cerebrospinal fluid of normal infants and children , 1981, Brain and Development.
[2] J. Charvet,et al. [Carnosinemia. First French case]. , 1980, Pediatrie.
[3] K. Wisniewski,et al. Carnosinase Deficiency: a New Variant with High Residual Activity , 1980, Pediatric Research.
[4] A. Fluharty,et al. Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy. , 1978, The Journal of pediatrics.
[5] H. Levy,et al. A VARIANT OF CARNOSINEMIA WITH NORMAL SERUM CARNOSINASE ACTIVITY IN AN INFANT , 1977, Pediatric Research.
[6] J. Berstad,et al. HOMOCARNOSINOSIS. 3 SPINAL FLUID AMINO ACIDS IN FAMILIAL SPASTIC PARAPLEGIA , 1977, Acta neurologica Scandinavica.
[7] J. Berstad,et al. HOMOCARNOSINOSIS. 2. A FAMILIAL METABOLIC DISORDER ASSOCIATED WITH SPASTIC PARAPLEGIA, PROGRESSIVE MENTAL DEFICIENCY, and RETINAL PIGMENTATION , 1976, Acta neurologica Scandinavica.
[8] N. Baumann,et al. Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy. , 1975, The New England journal of medicine.
[9] E. Burgess,et al. Plasma carnosinase deficiency in patients with urea cycle defects. , 1975, Clinica chimica acta; international journal of clinical chemistry.
[10] L. Gjessing,et al. HOMOCARNOSINOSIS: A NEW METABOLIC DISORDER ASSOCIATED WITH SPASTICITY AND MENTAL RETARDATION , 1974 .
[11] L. Mosovich,et al. Serum Carnosinase Deficiency Concomitant with Mental Retardation , 1973, Pediatric Research.
[12] D. Lindmark,et al. Carnosinase: A fluorometric assay and demonstration of two electrophoretic forms in human tissue extracts☆ , 1972 .
[13] K. Terplán,et al. Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation , 1972, Neurology.
[14] L. Monnens,et al. A PATIENT WITH A DEFICIENCY OF SERUM‐CARNOSINASE ACTIVITY , 1969, Acta paediatrica Scandinavica.
[15] D. Hsia,et al. Atypical phenylketonuria with borderline or normal intelligence. , 1968, American journal of diseases of children.
[16] T. Perry,et al. Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect. , 1967, The New England journal of medicine.
[17] E. Podoll,et al. ABOVE AVERAGE INTELLIGENCE IN UNTREATED PHENYLKETONURIA. , 1963, The Journal of pediatrics.