Zobrazeno 1 - 10
of 21
pro vyhledávání: '"H H, Jaspar"'
Autor:
I F, de Coo, F J, Gabreëls, W O, Renier, J J, de Pont, U J, van Haelst, J H, Veerkamp, J M, Trijbels, H H, Jaspar, K, Renkawek
Publikováno v:
Clinical neuropathology. 10(2)
In this study we present a patient with Canavan disease or Van Bogaert and Bertrand type of spongiform leukodystrophy, proven by brain biopsy. We performed morphological studies and biochemical assays on fresh homogenates of the grey and white matter
Publikováno v:
Documenta Ophthalmologica. 46:365-380
Publikováno v:
Clinical neurology and neurosurgery. 80(4)
Some clinical variants of oculopharyngeal dystrophy are known; a rare form is described in this article: the early-adult form of oculopharyngodistal myopathy. The diagnosis was made in 2 patients ((brother and sister) on the grounds of extensive clin
Autor:
L A, Bastiaensen, S L, Notermans, C H, Ramaekers, B J, van Dijke, E M, Joosten, H H, Jaspar, A M, Stadhouders, C T, Beljaars
Publikováno v:
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde. 184(1)
A 20-year-old man with the characteristic findings of infantile onset Kearns syndrome is described. Morphological and biochemical investigations proved a mitochondrial disease which we believe to be the cause of the symptoms in various organs. We ass
Autor:
M J, Prick, F J, Gabreëls, J M, Trijbels, A J, Janssen, R, le Coultre, K, van Dam, H H, Jaspar, E J, Ebels, A A, Op de Coul
Publikováno v:
Clinical neurology and neurosurgery. 85(1)
We present two unrelated patients, a boy and a girl, with a progressive neurologic disorder, characterized by psychomotor retardation, seizures and paresis, the illness being exacerbated during stressful periods. Lactate levels in serum and cerebrosp
Autor:
H L, Busard, W O, Renier, F J, Gabreëls, H H, Jaspar, J L, Slooff, A J, Janssen, U J, Van Haelst
Publikováno v:
Clinical neuropathology. 6(1)
Morphological and biochemical studies were performed on a brain biopsy from a patient with typical Lafora disease. Qualitative morphological investigation of the cortex showed that the Lafora bodies were most abundant in layers III and V of the cereb
Autor:
B C, Hamel, R C, Sengers, A M, Stadhouders, H H, Jaspar, H J, Ter Laak, J M, Trijbels, A W, Gabreëls-Festen
Publikováno v:
Helvetica paediatrica acta. 32(6)
The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared. I
Publikováno v:
European journal of pediatrics. 127(3)
This report describes a 3 year-old girl with signs of ventricular hypertrophy, short stature, and persistent diarrhoea (without steatorrhoea or creatorrhoea) which was resistant to therapy. There was no clinical evidence of myopathy but a myopathic p
Autor:
H H, JASPAR
Publikováno v:
Folia psychiatrica, neurologica et neurochirurgica Neerlandica. 62
Autor:
J J, Prick, H H, Jaspar
Publikováno v:
Proceedings of the Koninklijke Nederlandse Akademie van Wetenschappen. Series C. Biological and medical sciences. 75(4)