Search Results - "RAMAEKERS, V. T"

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits by Ramaekers, V T, Blau, N, Sequeira, J M, Nassogne, M-C, Quadros, E V

“…Reduced folate transport to the CNS was identified in two autism spectrum disorders, i.e., Rett syndrome and infantile low-functioning autism with neurological…”
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MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY by GARCIA-CAZORLA, A, QUADROS, E. V, ARENAS, J, PINEDA, M, RAMAEKERS, V. T, NASCIMENTO, A, GARCIA-SILVA, M. T, BRIONES, P, MONTOYA, J, ORMAZABAL, A, ARTUCH, R, SEQUEIRA, J. M, BLAU, N

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Cerebral folate deficiency with developmental delay, autism, and response to folinic acid by MORETTI, P, SAHOO, T, NEUL, J. L, RAMAEKERS, V. T, BLAU, N, BACINO, C. A, MILLER, G, SCAGLIA, F, HYLAND, K, BOTTIGLIERI, T, PETERS, S, DEL GAUDIO, D, ROA, B, CURRY, S, ZHU, H, FINNELL, R. H

“…The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with…”
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Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution by Ramaekers, V T, Häusler, M, Opladen, T, Heimann, G, Blau, N

“…Normal brain development and function depend on the active transport of folates across the blood-brain barrier. The folate receptor-1 (FR 1) protein is…”
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Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency by Ramaekers, V T, Weis, J, Sequeira, J M, Quadros, E V, Blau, N

“…Folate transport to the brain depends on ATP-driven folate receptor-mediated transport across choroid plexus epithelial cells. Failure of ATP production in…”
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The basis for folinic acid treatment in neuro-psychiatric disorders by Ramaekers, V.T., Sequeira, J.M., Quadros, E.V.

“…Multiple factors such as genetic and extraneous causes (drugs, toxins, adverse psychological events) contribute to neuro-psychiatric conditions. In a subgroup…”
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Role of folate receptor autoantibodies in infantile autism by Ramaekers, V T, Quadros, E V, Sequeira, J M

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Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies by Ramaekers, V.T., Thöny, B., Sequeira, J.M., Ansseau, M., Philippe, P., Boemer, F., Bours, V., Quadros, E.V.

“…Auto-antibodies against folate receptor alpha (FRα) at the choroid plexus that block N5-methyltetrahydrofolate (MTHF) transfer to the brain were identified in…”
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Genetic disorders and cerebellar structural abnormalities in childhood by RAMAEKERS, V. T, HEIMANN, G, REUL, J, THRON, A, JAEKEN, J

“…Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed…”
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X-linked dominant Charcot-Marie-Tooth disease : nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln) by SENDEREK, J, BERGMANN, C, QUASTHOFF, S, RAMAEKERS, V. T, SCHRÖDER, J. M

“…X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data,…”
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X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations by Senderek, Jan, Hermanns, Benita, Bergmann, Carsten, Boroojerdi, Babak, Bajbouj, Malek, Hungs, Marcel, Ramaekers, Vincent T., Quasthoff, Stefan, Karch, Dieter, Schröder, J.Michael

“…The sensorimotor neuropathy of the Charcot–Marie–Tooth type (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked…”
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Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome by Ramaekers, Vincent T, Rothenberg, Sheldon P, Sequeira, Jeffrey M, Opladen, Thomas, Blau, Nenad, Quadros, Edward V, Selhub, Jacob

“…Childhood cerebral folate deficiency is a disabling neurologic disorder in which folate is reduced in the cerebrospinal fluid but not in the blood. The usual…”
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White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination by Häusler, M, Anhuf, D, Schüler, H, Ramaekers, V T, Thron, A, Zerres, K, Möller-Hartmann, W

“…Proton magnetic resonance spectroscopic data ((1)H-MR spectroscopy) of patients with 18q deletion syndrome have not yet been reported. (1)H-MR spectroscopy,…”
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Early and late onset manifestations of cerebral vasculitis related to varicella zoster by Häusler, M G, Ramaekers, V T, Reul, J, Meilicke, R, Heimann, G

“…Varicella-zoster associated cerebral vasculitis (VZCV) as a cause of cerebral infarction has hitherto been considered a rare condition. Ischemic stroke in…”
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Delayed-onset profound biotinidase deficiency by Wolf, Barry, Pomponio, Robert J., Norrgard, Karen J., Lott, Ira T., Baumgartner, E.Regula, Suormala, Terttu, Ramaekers, Vincent Th, Coskun, Turgay, Tokatli, Aysegul, Ozalp, Imran, Hymes, Jeanne

“…Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood…”
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Selenium deficiency triggering intractable seizures by Ramaekers, V T, Calomme, M, Vanden Berghe, D, Makropoulos, W

“…Two children with severe neurodevelopmental retardation and elevated liver function tests developed intractable seizures during the first year of life…”
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Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome by Ramaekers, V T, Sequeira, J M, Artuch, R, Blau, N, Temudo, T, Ormazabal, A, Pineda, M, Aracil, A, Roelens, F, Laccone, F, Quadros, E V

“…Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% of…”
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Long-term outcome after neonatal parenchymatous brain lesions by Häusler, M, Merz, U, Van Tuil, C, Ramaekers, V T

“…Although considered of high prognostic impact, knowledge on the long-term outcome after neonatal parenchymatous brain lesions (PBL) is limited. 29 children…”
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A new variant of the carbohydrate deficient glycoproteins syndrome by Ramaekers, V. T., Stibler, H., Kint, J., Jaeken, J.

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Central pontine myelinolysis associated with acquired folate depletion by Ramaekers, V T, Reul, J, Kusenbach, G, Thron, A, Heimann, G

“…After long-standing malnutrition a 15-month-old boy with signs of kwashiorkor was admitted in a moribund state with serious hyponatraemic dehydration,…”
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