Zobrazeno 1 - 10
of 194
pro vyhledávání: '"K. Michals"'
Autor:
Maria Aloya, K. Michals, Rajinder Kaul, Kuppareddi Balamurugan, Reuben Matalon, Arlene Petrosky, Guang P. Gao
Publikováno v:
Angiología. 55:34-40
Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands were analyzed for mutations in the ASPA gene. Three point mutations--693C-->A, 854A-->C, and 914C-->A--were identified in
Autor:
C. Azen, K Michals, L. Castiglioni, Phyllis B. Acosta, Frances Rohr, V. Austin, Elizabeth Wenz
Publikováno v:
European Journal of Pediatrics. 155:S165-S168
Maternal weight gain and intake of selected nutrients were correlated with plasma phenylalanine (Phe) concentrations and reproductive outcomes (in 150 and 142 subjects respectively) in the Maternal PKU Collaborative Study. Daily protein intake was ne
Publikováno v:
Journal of Inherited Metabolic Disease. 16:744-752
Deficiency of the enzyme aspartoacylase and the accumulation of N-acetylaspartic acid lead to a severe leukodystrophy and spongy degeneration of the brain, Canavan disease (McKusick 271900). Since our discovery in 1988 of the defect in Canavan diseas
Publikováno v:
Clinical Pediatrics. 31:331-335
A treatment program for adolescents with phenylketonuria (PKU) , incorporating education, goal-setting, self-monitoring, contracts, and rewards, was evaluated by measuring knowledge of PKU, blood phenylalanine concentrations, and health locus of cont
Autor:
Reuben Matalon, K. Michals
Publikováno v:
Clinical Biochemistry. 24:337-342
Phenylketonuria (PKU) has become a paradigm of a disease that can be identified by screening in the newborn period and treated to prevent serious complications. After many years of experience treating PKU, new challenges have emerged. It has become a
Autor:
F. de la Cruz, Reuben Matalon, R. Koch, K. Michals, E. G. Friedman, E. Wenz, Azen Cg, Harvey L. Levy, William B. Hanley, Frances Rohr, Valerie Austin, L. Castiglioni, Bobbye Rouse
Publikováno v:
Journal of Inherited Metabolic Disease. 14:371-374
Autor:
R. G. F. Gray, C.A.J.M. Jakobs, S. Bennett-Briton, Rajinder Kaul, A. Norman, Guangping Gao, K. Michals, M. Smith, Reuben Matalon
Publikováno v:
Journal of Inherited Metabolic Disease. 18:215-217
Publikováno v:
Human Mutation. 5:269-271
Autor:
Colleen Azen, William B. Hanley, Reuben Matalon, K. Michals, F. de la Cruz, Bobbye Rouse, Eva Gross Friedman, Richard Koch
Publikováno v:
Journal of Inherited Metabolic Disease. 17:353-355
Pregnant women who have phenylketonuria (PKU; McKusick 261600) are at risk of having children with microcephaly, cardiac defects and mental retardation (Dent 1957; Mabry et al 1963; Lenke and Levy 1980). The results of a 7-year longitudinal, prospect