Search Results - "Meili, David"

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability by Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel

“…Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia…”
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Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application by Cremonesi, Alessio, Meili, David, Rassi, Anahita, Poms, Martin, Tavazzi, Barbara, Škopová, Václava, Häberle, Johannes, Zikánová, Marie, Hersberger, Martin

“…To develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to quantify 41 different purine and pyrimidine (PuPy) metabolites in human urine…”
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The short coiled-coil domain-containing protein UNC-69 cooperates with UNC-76 to regulate axonal outgrowth and normal presynaptic organization in Caenorhabditis elegans by Su, Cheng-Wen, Tharin, Suzanne, Jin, Yishi, Wightman, Bruce, Spector, Mona, Meili, David, Tsung, Nancy, Rhiner, Christa, Bourikas, Dimitris, Stoeckli, Esther, Garriga, Gian, Horvitz, H Robert, Hengartner, Michael O

“…The nematode Caenorhabditis elegans has been used extensively to identify the genetic requirements for proper nervous system development and function. Key to…”
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Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants by Adamsen, Dea, Meili, David, Blau, Nenad, Thöny, Beat, Ramaekers, Vincent

“…The known Gly56Ala mutation in the serotonin transporter SERT (or 5-HTT), encoded by the SLC6A4 gene, causes increased serotonin reuptake and has been…”
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Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency by Brasil, Sandra, Viecelli, Hiu Man, Meili, David, Rassi, Anahita, Desviat, Lourdes R., Pérez, Belen, Ugarte, Magdalena, Thöny, Beat

“…Antisense oligonucleotide therapy to modulate splicing mutations in inherited diseases is emerging as a treatment option also for metabolic defects. In this…”
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Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene by Adamsen, Dea, Ramaekers, Vincent, Ho, Horace Tb, Britschgi, Corinne, Rüfenacht, Véronique, Meili, David, Bobrowski, Elise, Philippe, Paule, Nava, Caroline, Van Maldergem, Lionel, Bruggmann, Rémy, Walitza, Susanne, Wang, Joanne, Grünblatt, Edna, Thöny, Beat

“…Patients with autism spectrum disorder (ASD) may have low brain serotonin concentrations as reflected by the serotonin end-metabolite 5-hydroxyindolacetic acid…”
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Genotype-predicted tetrahydrobiopterin (BH 4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency by Karačić, Iva, Meili, David, Sarnavka, Vladimir, Heintz, Caroline, Thöny, Beat, Ramadža, Danijela Petković, Fumić, Ksenija, Mardešić, Duško, Barić, Ivo, Blau, Nenad

“…Specific mutations in the gene encoding phenylalanine hydroxylase ( PAH), located on chromosome 12q22-24.1, are linked to tetrahydrobiopterin (BH 4;…”
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Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail by Meili, David, Kralovicova, Jana, Zagalak, Julian, Bonafé, Luisa, Fiori, Laura, Blau, Nenad, Thöny, Beat, Vorechovsky, Igor

“…Cryptic exons or pseudoexons are typically activated by point mutations that create GT or AG dinucleotides of new 5' or 3' splice sites in introns, often in…”
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Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study by Fiege, Betina, Bonafé, Luisa, Ballhausen, Diana, Baumgartner, Matthias, Thöny, Beat, Meili, David, Fiori, Laura, Giovannini, Marcello, Blau, Nenad

“…Patients with tetrahydrobiopterin (BH 4)-responsive phenylalanine hydroxylase (PAH) deficiency may benefit from BH 4 therapy instead or in addition to the…”
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Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis by Balasubramaniam, Shanti, Lewis, Barry, Greed, Lawrence, Meili, David, Flier, Annegret, Yamamoto, Raina, Bilić, Karmen, Till, Claudia, Sass, Jörn Oliver

“…We describe two half-siblings with monocarboxylate transporter 1 (MCT1, SLC16A1) deficiency, a defect on ketone body utilization, that has only recently been…”
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