Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Chang Y. Tsao"'
Publikováno v:
Journal of Child Neurology. 9:135-138
Adrenal insufficiency has been associated with adrenoleukodystrophy and adrenomyeloneuropathy. In these diseases, plasma very long chain fatty acids are elevated. Peripheral neuropathy is frequently seen in adults with adrenomyeloneuropathy. We encou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb954a65711c3a617a765a6d8384b8e0
https://doi.org/10.1177/088307389400900206
https://doi.org/10.1177/088307389400900206
Autor:
Chang Y. Tsao
Publikováno v:
Clinical EEG and neuroscience. 42(3)
Charcot-Marie-Tooth disease 1A (CMT1A) is the most common autosomal dominant demyelinating sensorimotor polyneuropathy. A few patients with Charcot-Marie-Tooth disease were reported in the literature to have epilepsy. We report on an African-American
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c961b65377c751e1d90c3c6a26e02a4f
https://pubmed.ncbi.nlm.nih.gov/21870475
https://pubmed.ncbi.nlm.nih.gov/21870475
Autor:
Judith A. Westman, Chang Y. Tsao
Publikováno v:
American Journal of Medical Genetics. 71:54-56
We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80edc8b85591db90d4554a8cd81b5f67
https://doi.org/10.1002/(sici)1096-8628(19970711)71:1<54::aid-ajmg10>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970711)71:1<54::aid-ajmg10>3.0.co
Autor:
Chang Y. Tsao, George W. Paulson
Publikováno v:
Journal of child neurology. 20(7)
Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a70a676515aa50f12935aee83e40e0
https://pubmed.ncbi.nlm.nih.gov/16159533
https://pubmed.ncbi.nlm.nih.gov/16159533
Publikováno v:
American journal of medical genetics. Part A. (2)
Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22121fc9f83bd1bc1b2d04b0ab692287
https://pubmed.ncbi.nlm.nih.gov/15690344
https://pubmed.ncbi.nlm.nih.gov/15690344
Publikováno v:
Journal of Child Neurology. 10:486-488
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647f26060b9aef29b630d447d3730f74
https://doi.org/10.1177/088307389501000614
https://doi.org/10.1177/088307389501000614
Publikováno v:
American Journal of Medical Genetics. 45:594-596
An infant girl with Aicardi syndrome, scalp lipomas, and angiosarcoma of a limb is reported. The cavernous hemangioma of the leg was benign when biopsied at age 5 months but became malignant at 11 months. Angiosarcoma caused multiple distant metastas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea9f8550e998e6c7a77db1ee2d8595a
https://doi.org/10.1002/ajmg.1320450515
https://doi.org/10.1002/ajmg.1320450515
Autor:
Chang Y. Tsao, Francis S. Wright
Publikováno v:
Epilepsia. 34:174-176
A 5-year-old mentally retarded child developed laboratory evidence of pancreatitis during accidental acute carbamazepine (CBZ) intoxication. He had been seizure-free with CBZ for 4 years for a seizure disorder with no obvious toxicity. CBZ had been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ad590bb3e118b211c8f10d317640497
https://doi.org/10.1111/j.1528-1157.1993.tb02394.x
https://doi.org/10.1111/j.1528-1157.1993.tb02394.x
Publikováno v:
Journal of child neurology. 15(7)
Patients with mitochondrial respiratory-chain defects frequently exhibit lactic acidosis, ragged red fibers in skeletal muscle samples, and abnormal enzyme assays for the respiratory-chain complex. However, ragged red fibers and lactic acidosis are n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d40e483a261ded501189f42695a43e
https://pubmed.ncbi.nlm.nih.gov/10921514
https://pubmed.ncbi.nlm.nih.gov/10921514
Publikováno v:
Clinical Electroencephalography. 22:141-143
The absence of bilateral early cortical SEPs in a PVS due to nontraumatic coma is usually associated with failure to recover cognition or awareness, although rarely patients with bilaterally absent cortical SEPs in posttraumatic PVS may regain cognit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d083fb97bc5835f6724f007bf10c9c15
https://doi.org/10.1177/155005949102200304
https://doi.org/10.1177/155005949102200304