Zobrazeno 1 - 10
of 93
pro vyhledávání: '"R. Kálmánchey"'
Autor:
Z Vekerdy, Sándor Túri, M. T. Bassi, Emőke Endreffy, C Baschirotto, Chris Panzeri, László Sztriha, Nereo Bresolin, Nóra Szabó, R Kálmánchey
Publikováno v:
Clinical Genetics. 73:591-593
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f411a236d99cadd6e19413df1c8dd9d7
https://doi.org/10.1111/j.1399-0004.2008.00993.x
https://doi.org/10.1111/j.1399-0004.2008.00993.x
Autor:
Nenad Blau, Á. Kovács, Ágnes Schuler, R. Kálmánchey, P. Barsi, I. Törös, Cs. Somogyi, I. Váradi
Publikováno v:
Journal of inherited metabolic disease. 23(4)
Most patients suffering from tetrahydrobiopterin (BH 4 ) deficiency show an inadequate clinical outcome. Besides the administration of synthetic BH 4 or phenylalanine-restricted diet, neurotransmitter substitution with L-Dopa plus carbidopa (10:1) an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef13654f4ede3a238a2546532d72b44
https://pubmed.ncbi.nlm.nih.gov/10896286
https://pubmed.ncbi.nlm.nih.gov/10896286
Publikováno v:
Orvosi hetilap. 139(43)
Authors report the case of a white male patient suffering from a rare neurocutaneous dysplasia. Macrocrania and right ventricular dilation of the brain were present at birth. Motor milestones were delayed and epilepsy with staring spells started at t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da88b06e54be7a41cebcd66d5335f2f1
https://pubmed.ncbi.nlm.nih.gov/9825649
https://pubmed.ncbi.nlm.nih.gov/9825649
Publikováno v:
Orvosi hetilap. 138(28)
The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::45e6f667ac96933dbfe4a6adbaa83e0a
https://pubmed.ncbi.nlm.nih.gov/9280876
https://pubmed.ncbi.nlm.nih.gov/9280876
Publikováno v:
Orvosi hetilap. 138(14)
7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ffc44226ab5e8bd1790095a5ffacf18f
https://pubmed.ncbi.nlm.nih.gov/9162896
https://pubmed.ncbi.nlm.nih.gov/9162896
Publikováno v:
Orvosi hetilap. 137(31)
Authors report a rare central nervous system malformation on giving account of three of their cases. The possibility of septo-optic dysplasia should be raised in children with unilateral or bilateral hypoplasia of the optic nerve. The use of neuroima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a0a108a541ba1c625c79e4c16e4fd81
https://pubmed.ncbi.nlm.nih.gov/8992420
https://pubmed.ncbi.nlm.nih.gov/8992420
Publikováno v:
Orvosi hetilap. 136(5)
Three children with non-ketotic hyperglycinaemia (NKH) is reported. Two patients had typical neonatal form of NKH, one patients had atypical form of NKH. The clinical symptoms laboratory findings and therapeutical approach are discussed. One of the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::823641a0317e25ad2c2ba55ef3d4a0a0
https://pubmed.ncbi.nlm.nih.gov/7772127
https://pubmed.ncbi.nlm.nih.gov/7772127
Publikováno v:
Orvosi hetilap. 133(39)
Two children with osteosarcoma are presented in whom Wernicke encephalopathy with vomiting occurred during the chemotherapy. One of the children died with symptoms of toxic cardiomyopathy. Autopsy revealed Wernicke encephalopathy. The other child had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75e2ac908a5b2081b1b9db9bfffdf554
https://pubmed.ncbi.nlm.nih.gov/1408086
https://pubmed.ncbi.nlm.nih.gov/1408086
Publikováno v:
Orvosi hetilap. 133(35)
The case of a two year-old boy is described with dancing eyes syndrome (DES) together with ganglioneuroblastoma. Surgical removal of the tumour and ACTH therapy resulted in rapid improvement, and an almost symptome-free condition. The literature is r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4b204bdee9d76e5375b2ef76a8561f51
https://pubmed.ncbi.nlm.nih.gov/1326737
https://pubmed.ncbi.nlm.nih.gov/1326737
Publikováno v:
Acta paediatrica Hungarica. 31(1)
Brainstem acoustic evoked potentials (BAEPs) were measured in 14 children with different type of posterior fossa tumours several times during the clinical course, in order to assess the value of this simple and non-invasive method in the diagnosis an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6fb660d2f6ccccdd306929f225ae4ebe
https://pubmed.ncbi.nlm.nih.gov/1867881
https://pubmed.ncbi.nlm.nih.gov/1867881