Výsledky vyhledávání - "L. M. E. Smit"

Arthrogryposis Multiplex Congenita due to Congenital Myasthenia

Autor: L. M. E. Smit, P. G. Earth

Publikováno v: Developmental Medicine & Child Neurology. 22:371-374

SUMMARY Decreased fetal movements may cause arthrogryposis multiplex congenita. Several distinct neuromuscular disorders may cause this syndrome, but congenital myasthenia has not previously been considered to be a possible cause. The authors report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b84b21ffd1d8b45bfb27c5d95876bde
https://doi.org/10.1111/j.1469-8749.1980.tb03718.x

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Unusual variants of Alexander's disease

Autor: Marjo S. van der Knaap, Frederik Barkhof, Albee Messing, L. M. E. Smit, Luiz González Gutiérrez-Solana, Michael Brenner, Anne B. Johnson, Gajja S. Salomons, Bruce A.C. Cree, Richard O. Robinson, Collin D. Ferrie, Cornelis Jakobs, Neil H. Thomas, Emilio Franzoni, Alyssa Reddy, Rong Li, Brenda Banwell

Publikováno v: Annals of Neurology. 57:327-338

The purpose of this study was to describe unusual variants of Alexander's disease. We studied 10 patients who did not meet previously established magnetic resonance imaging (MRI) criteria for Alexander's disease, but for whom this diagnosis was consi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8c87427cfcae2e9dfb8d453b4b9894d3
https://doi.org/10.1002/ana.20381

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Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)

Autor: Phillip L. Pearl, Maneesh Gupta, Mendel Tuchman, O. Carter Snead, L. Gilbert Vezina, K. Michael Gibson, Cornelis Jakobs, L. M. E. Smit

Publikováno v: Biological Psychiatry. 54:763-768

Background We report two adult patients with succinic semialdehyde dehydrogenase deficiency, manifesting as γ-hydroxybutyric aciduria. For both, the clinical presentation included significant behavioral disturbances and psychosis (hallucinations, di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366cdbf6ae542cf6438cacdfa4dbeac1
https://doi.org/10.1016/s0006-3223(03)00113-6

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Cerebral cavernous hemangiomas in childhood

Autor: F. J. J. Halbertsma, L. M. E. Smit

Publikováno v: Child's Nervous System. 13:522-525

Cerebral cavernous hemangiomas (CCH) are relatively rare vascular hamartomas. Since the introduction of MRI there has been an increase in the number of case reports of CCH in the medical literature. CCH are often asymptomatic; they may, however, caus

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https://doi.org/10.1007/s003810050130

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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

Autor: J. Valk, J. H. Begeer, Oebele F. Brouwer, M.S. van der Knaap, Peter G. Barth, I.F.M. de Coo, L. M. E. Smit, Coriene E. Catsman-Berrevoets

Publikováno v: Van Der Knaap, M S, Smit, L M E, Barth, P G, Catsman-Berrevoets, C E, Brouwer, O F, Begeer, J H, De Coo, I F M & Valk, J 1997, ' Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities ', Annals of Neurology, vol. 42, no. 1, pp. 50-59 . https://doi.org/10.1002/ana.410420110
Annals of neurology, 42(1), 50-59. John Wiley and Sons Inc.
Annals of Neurology, 42, 50-59. John Wiley & Sons Inc.
Annals of Neurology, 42(1), 50-59. John Wiley and Sons Inc.

A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to evaluate the contribution of MRI to the classification of CMD patients. In 5 patients with Walk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fc0832db4f900472fcd6d85e591d0e9
https://doi.org/10.1002/ana.410420110

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Congenital supratentorial arachnoidal and giant cysts in children: a clinical study with arguments for a conservative approach

Autor: L. M. E. Smit, Iris E. C. Sommer

Publikováno v: Child's Nervous System, 13, 8-12. Springer Verlag
Sommer, I E C & Smit, L M E 1997, ' Congenital supratentorial arachnoidal and giant cysts in children: a clinical study with arguments for a conservative approach ', Child's Nervous System, vol. 13, pp. 8-12 . https://doi.org/10.1007/s003810050030

Little is known about the natural course of arachnoidal cysts (AC) and the incidence of complications. This poses a problem in selection of patients for surgical interventions. The present authors report on 19 children with supratentorial AC of varyi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bbac52e1565f53f84b4d6b6ddadf8d
https://hdl.handle.net/1871/24576

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Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

Autor: P. J. H. Jongen, Arie Oosterhof, Ron A. Wevers, Jacques H. Veerkamp, H. F. M. Busch, L. M. E. Smit, A.A.G.M. Benders, René J. M. Bindels

Publikováno v: Journal of Clinical Investigation. 94:741-748

Brody's disease, i.e., sarcoplasmic reticulum (SR) Ca(2+)-dependent Mg(2+)-ATPase (Ca(2+)-ATPase) deficiency, is a rare inherited disorder of skeletal muscle function. Pseudo-myotonia is the most important clinical feature. SR Ca(2+)-ATPase and Ca2+

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ff44e3d1f831dd1cea8b5e79810597
https://doi.org/10.1172/jci117393

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Moyamoya Disease Associated with Renovascular Hypertension

Autor: A. J. M. Donker, L. M. E. Smit, J. N. Jansen, W. J. Luth

Publikováno v: Neuropediatrics. 21:44-47

This is a report of a case history of a child with cerebral Moyamoya disease and gradual development of systemic hypertension. Sodium depletion combined with enalapril induced renal failure. A bilateral renal artery stenosis was found. Percutaneous t

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https://doi.org/10.1055/s-2008-1071457

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A new case of dihydropyrimidine dehydrogenase deficiency

Autor: L. M. E. Smit, M. Brockstedt, Rudolphus Berger, A. H. van Gennip, C.A.J.M. Jakobs

Publikováno v: Journal of Inherited Metabolic Disease. 13:121-124

We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f610a540fd8fd8dec5f223b1df8b56
https://doi.org/10.1007/bf01799339

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[A boy with acute cerebellar ataxia without opsoclonus caused by neuroblastoma]

Autor: R S, Blokker, L M E, Smit, C, van den Bos, P C, Overberg, H N, Caron, G J L, Kaspers

Publikováno v: Nederlands tijdschrift voor geneeskunde. 150(14)

A 2-year-old boy presented with acute cerebellar ataxia without opsoclonus. The ataxia was assumed to be post-viral. After a period of years a neuroblastoma was detected. Treatment with a curative intent was successful and consisted of metaiodobenzyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5209b2040000b9101fc65960d5491205
https://pubmed.ncbi.nlm.nih.gov/16649400

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