Zobrazeno 1 - 7
of 7
pro vyhledávání: '"L. D. Keppen"'
Autor:
L D, Keppen, B, Randall
Publikováno v:
South Dakota journal of medicine. 52(6)
Inborn errors of fatty acid oxidation, including medium chain acyl CoA dehydrogenase (MCAD) deficiency are readily detectable and treatable metabolic disorders in which recognition of symptoms is important. Symptoms occur when there is fasting, often
Publikováno v:
American journal of medical genetics. 69(1)
We describe a "new" syndrome of spondylospinal thoracic dysostosis with a short curved spine and fusion of the spinous processes, short thorax with "crab-like" configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pteryg
Publikováno v:
Neurology. 46(4)
X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated. The pure form is characterized by spasticity and gait difficulties but lacks the additional features (nystagmus, dysarthria, mental retardation)
Publikováno v:
Neurotoxicology. 11(2)
Because alcohol has an adverse effect on zinc homeostasis, this study was designed to study if zinc content of the diet modifies the severity of fetal alcohol syndrome in a mouse model. The effect of varying zinc intake on the progeny of pregnant mic
Autor:
H T, Gilmore, L D, Keppen
Publikováno v:
South Dakota journal of medicine. 31(4)
Publikováno v:
Neurotoxicology. 9(3)
Fragile X syndrome is the second most common chromosomal cause of mental retardation (MR). The calculated incidence is 1/1000, making accurate and early diagnosis important for specific preventive, pharmacologic, and cognitive treatment. The timely d
Autor:
L D, Keppen, M F, Leppert, P, O'Connell, Y, Nakamura, D, Stauffer, M, Lathrop, J M, Lalouel, R, White
Publikováno v:
American journal of human genetics. 41(5)
We describe a large family (K313) having 12 males affected with X chromosome-linked recessive hereditary spastic paraplegia (HSP). The disease phenotype in K313 is characterized by hyperreflexia and a spastic gait, but intelligence is normal. Carrier