Search Results - "REGAL, L"

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency by Brun, L, Ngu, L H, Keng, W T, Ch'ng, G S, Choy, Y S, Hwu, W L, Lee, W T, Willemsen, M A A P, Verbeek, M M, Wassenberg, T, Régal, L, Orcesi, S, Tonduti, D, Accorsi, P, Testard, H, Abdenur, J E, Tay, S, Allen, G F, Heales, S, Kern, I, Kato, M, Burlina, A, Manegold, C, Hoffmann, G F, Blau, N

“…To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase…”
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MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG by Palmigiano, A., Bua, R. O., Barone, R., Rymen, D., Régal, L., Deconinck, N., Dionisi‐Vici, C., Fung, C.‐W., Garozzo, D., Jaeken, J., Sturiale, L.

“…Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. Conserved oligomeric Golgi (COG)‐CDG are genetic diseases…”
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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria by Jansen, A C, Oostra, A, Desprechins, B, De Vlaeminck, Y, Verhelst, H, Régal, L, Verloo, P, Bockaert, N, Keymolen, K, Seneca, S, De Meirleir, L, Lissens, W

“…Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Twenty-five patients with malformations of cortical…”
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Changes of CD3+CD56+ γδ T cell number and apoptosis during hospital admission are related to mortality in septic patients by Andreu-Ballester, J.C., Arribas, M.A., Rico, M., García-Ballesteros, C., Galindo-Regal, L., Sorando-Serra, R., Albert, L., Navarro, A., López-Chuliá, F., Peydró, F., Cuéllar, C.

“…Immunoparalysis and apoptosis of T cells are serious problems for the evolution of septic patients. We aimed to relate changes in the number of αβ and γδ T…”
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Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons by Morawski, M, Nuytens, K, Juhasz, T, Zeitschel, U, Seeger, G, Waelkens, E, Regal, L, Schulz, I, Arendt, T, Szeltner, Z, Creemers, J, Roßner, S

“…Graphical abstract Highlights ► PREPL deficiency affects the abundance of cytoskeletal proteins. ► PREPL is co-localized with cytoskeletal proteins in mouse…”
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P98 – 3040: Early diagnosis of maple syrup urine disease (MSUD) by means of neonatal EEG and MRI in a newborn with encephalopathy by Dereymaeker, A, Jansen, K, Vervisch, J, Naulaers, G, Regal, L

“…Objective Early diagnosis of maple syrup urine disease (MSUD) by means of neonatal EEG and MRI in a newborn with encephalopathy. Methods This male neonate was…”
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RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation by Jaeken, J., Vleugels, W., Régal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C.

“…Summary Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids…”
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ALG11-CDG: Three novel mutations and further characterization of the phenotype by Regal, L., van Hasselt, P.M., Foulquier, F., Cuppen, I., Prinsen, HCMT, Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., Jaeken, J.

“…We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural…”
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P5.41 ATP synthase deficiency: A diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction by Van Coster, R, Smet, J, De Paepe, B, Seneca, S, De Meirleir, L, Regal, L, Evangeliou, A, Lissens, W

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Drying process, storage conditions, and time alter the biochemical composition and bioactivity of the anti-greenhouse seaweed Asparagopsis taxiformis by Regal, A. L., Alves, V., Gomes, R., Matos, J., Bandarra, N. M., Afonso, C., Cardoso, C.

“…The Azorean red seaweed Asparagopsis taxiformis may be used in human and animal diets. This seaweed is deemed to reduce the large production of methane—a major…”
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Nonalcoholic fatty liver disease:A comprehensive review of a growing epidemic by Hassan, Kareem

“…Nonalcoholic fatty liver disease(NAFLD)is quickly becoming one of the most prominent causes of liver disease worldwide.The increasing incidence of NAFLD is…”
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P001 Cystic fibrosis newborn screening (CF-NBS) start-up in Flanders (Belgium): report of first evaluation after 3 years by Proesmans, M., Regal, L., Eyskens, F., Roosens, L., Marcelis, L., Seneca, S., Storm, K., Colaert, K., De Wachter, E.

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RISK FACTORS FOR ELEVATED LEVELS OF 17-HYDROXYPROGESTERONE DURING NEONATAL INTENSIVE CARE UNIT ADMISSION by Pauwels, G, Allegaert, K, Régal, L, Meulemans, A

“…Introduction - Screening for congenital adrenal hyperplasia (CAH) by measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots results in a high…”
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Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy by Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P. N., Fuchs, Sabine A., Darin, Niklas, Hedberg‐Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha

“…Mitochondrial trifunctional protein (MTP) is involved in long‐chain fatty acid β‐oxidation (lcFAO). Deficiency of one or more of the enzyme activities as…”
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The first record of the slender sunfish Ranzania laevis from the Red Sea by Abu El-Regal, M. A., El-Moselhy, K.

“…A female specimen of the slender sunfish Ranzania laevis of 600 mm total length was recorded for the first time from the Red Sea after being stranded on a…”
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Newborn screening : the point of view of the paediatrician by De Laet, C, Laeremans, H, Ferster, A, Gulbis, B, Mansbach, A-L, Jonniaux, E, Regal, L, Goyens, P

“…Newborn screening is a public health effort that has changed the prognosis of some congenital diseases. Newborn screening programmes differ between countries…”
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I TUBAIA mutations: I From isolated lissencephaly to familial polymicrogyria by JANSEN, A. C, OOSTRA, A, DE MEIRLEIR, L, LISSENS, W, DESPRECHINS, B, DE VLAEMINCK, Y, VERHELST, H, REGAL, L, VERLOO, P, BOCKAERT, N, KEYMOLEN, K, SENECA, S

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2FC3.6 How to diagnose complex V deficiency, an emerging cause of OXPHOS dysfunction by Smet, J., Lissens, W., De Paepe, B., Seneca, S., De Meirleir, L., Regal, L., Evangeliou, A., Van Coster, R.

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Cardiovascular reactivity and prediction of the high blood pressure in the community by Mikhail Benet Rodríguez, Liliana J Espinosa Chang, Juan José Apollinaire Pennini, Milagros L León Regal, María Felicia Casanova González

“…Background: The development of strategies to reduce the prevalence of high blood pressure is an important challenge for all countries, populations, and…”
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P011 Cystic fibrosis – newborn screening (CF-NBS) start-up in Flanders (Belgium): report of first evaluation after two years by Proesmans, M., Régal, L., Eyskens, F., Roosens, L., Marcelis, L., Seneca, S., Storme, K., Colaert, K., De Wachter, E.

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