Zobrazeno 1 - 8
of 8
pro vyhledávání: '"E. J. P. Lommen"'
Autor:
R. C. A. Sengers, C.J.A.M. van der Burgt, W. P. de Boode, J. M. van Wijk-Hoek, Jos M. T. Draaisma, E. J. P. Lommen, B.A. Semmekrot, H.J. ter Laak
Publikováno v:
Acta Neuropathologica, 92, pp. 597-602
Acta Neuropathologica, 92, 597-602
Acta Neuropathologica, 92, 6, pp. 597-602
Acta Neuropathologica, 92, 597-602
Acta Neuropathologica, 92, 6, pp. 597-602
Two patients with a Noonan phenotype and progressive hypertrophic obstructive cardiomyopathy are described, in whom abnormal histopathological changes in striated musculature were detected. In both patients an increased density of muscle spindles was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b56d05037f1ec537a214d8337aad52
https://hdl.handle.net/2066/122249
https://hdl.handle.net/2066/122249
Autor:
T. W. J. Hustinx, B. G. A. ter Haar, J. A. G. Geelen, Willy O. Renier, U. J. G. M. van Haelst, Fons J. M. Gabreëls, H. H. J. Jaspar, E. J. P. Lommen
Publikováno v:
Acta Neuropathologica. 54:11-17
Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9daba464ae75a80465d51037c8206719
https://doi.org/10.1007/bf00691328
https://doi.org/10.1007/bf00691328
Autor:
E. D. A. M. Schretlen, J. M. F. Trijbels, S. P. M. Van Der Zee, E. J. P. Lommen, G. D. Vogels
Publikováno v:
Acta Paediatrica. 60:642-646
Summary This paper presents the results of an investigation on the concentration of purine nucleotides in erythrocytes of two children with the Lesch-Nyhan syndrome before and during oral adenine administration. The nucleotides AMP, ADP, ATP and GTP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e60bd5eeab661963358850516898427
https://doi.org/10.1111/j.1651-2227.1971.tb07004.x
https://doi.org/10.1111/j.1651-2227.1971.tb07004.x
Publikováno v:
Acta paediatrica Scandinavica. 63(1)
Summary This paper deals with a preliminary investigation concerning the possible mechanisms causing an aberrant purine nucleotide pattern in erythrocytes of hypoxanthine guanine phos phoribosyltransferase deficient individuals (Lesch-Nyhan Syndrome)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b215243146dd60b52c48bbe58abf4819
https://pubmed.ncbi.nlm.nih.gov/4830404
https://pubmed.ncbi.nlm.nih.gov/4830404
Autor:
E. J. P. Lommen, N. Beganović
Publikováno v:
Acta paediatrica Scandinavica. 66(2)
A case of Focal Dermal Hypoplasia (Goltz syndrome), diagnosed at birth, is reported. Some findings not formerly described (hemimelia, schizis of the palatum molle and the absence of one umbilical artery) are reported. Normal findings in chromosome st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5ddd5e09ec936705c722ae5fdcd73b
https://pubmed.ncbi.nlm.nih.gov/842347
https://pubmed.ncbi.nlm.nih.gov/842347
Publikováno v:
Clinical genetics. 4(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879bc8a631a8caa93772ed93ea282138
https://pubmed.ncbi.nlm.nih.gov/4747812
https://pubmed.ncbi.nlm.nih.gov/4747812
Publikováno v:
Acta paediatrica Scandinavica. 59(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2086de5dc491ae87843c6d05ec6a2eaf
https://pubmed.ncbi.nlm.nih.gov/5444710
https://pubmed.ncbi.nlm.nih.gov/5444710
Autor:
J. L. M. Strengers, Raoul C.M. Hennekam, E. J. P. Lommen, H. G. Van Spijker, T. M. G. Jansen-Kokx
Publikováno v:
European journal of pediatrics, 148(5), 439-441. Springer Verlag
The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4835de25d65710c74f4b404f6b3c74
https://doi.org/10.1007/bf00595907
https://doi.org/10.1007/bf00595907