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Mutations In A Gene Encoding A Novel Sh3/Tpr Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
(Univ Chicago Press, 2003)
Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited ...
Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria
(Oxford Univ Press, 2003)
Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with ...
Comprehensive Isokinetic Knee Measurements And Quadriceps Tendon Evaluations In Footballers For Assessing Functional Performance
(B M J Publishing Group, 2003)
Objectives: To ascertain whether detailed isokinetic knee muscle testing reflects the results of other functional measurements in footballers and to look for any correlations between quadriceps tendon thickness and knee ...
Successful Treatment with Interferon Alfa in Infiltrating Angiolipoma: A Case Presenting with Kasabach-Merritt Syndrome
(British Med Journal Publ Group, 2003)
We report a case of infiltrating angiolipoma who presented with a large mass on the shoulder and the signs of Kasabach-Merritt syndrome. She improved dramatically within one month and the mass completely disappeared after ...
Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis
(Univ Chicago Press, 2003)
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ...
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...