Search Results - "Journal of Inherited Metabolic Disease"

Opportunities and challenges for antisense oligonucleotide therapies by Kuijper, Elsa C., Bergsma, Atze J., Pijnappel, W.W.M. Pim, Aartsma‐Rus, Annemieke

“…Antisense oligonucleotide (AON) therapies involve short strands of modified nucleotides that target RNA in a sequence‐specific manner, inducing targeted…”
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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision by Häberle, Johannes, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Karall, Daniela, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Pintos‐Morell, Guillem, Santer, René, Skouma, Anastasia, Servais, Aude, Tal, Galit, Rubio, Vicente, Huemer, Martina, Dionisi‐Vici, Carlo

“…In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000…”
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An international classification of inherited metabolic disorders (ICIMD) by Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

“…Several initiatives at establishing a classification of inherited metabolic disorders have been published previously, some focusing on pathomechanisms, others…”
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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision by Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

“…Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the…”
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Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation by Froese, D. Sean, Fowler, Brian, Baumgartner, Matthias R.

“…Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its complex structure and dual cofactor forms, Cbl undergoes a complicated series…”
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Disorders affecting vitamin B6 metabolism by Wilson, Matthew P., Plecko, Barbara, Mills, Philippa B., Clayton, Peter T.

“…Vitamin B6 is present in our diet in many forms, however, only pyridoxal 5′‐phosphate (PLP) can function as a cofactor for enzymes. The intestine absorbs…”
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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency by Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.

“…Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine…”
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency by Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo

“…Background Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of…”
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Disorders affecting vitamin B 6 metabolism by Wilson, Matthew P, Plecko, Barbara, Mills, Philippa B, Clayton, Peter T

“…Vitamin B is present in our diet in many forms, however, only pyridoxal 5'-phosphate (PLP) can function as a cofactor for enzymes. The intestine absorbs…”
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Blood–brain barrier structure and function and the challenges for CNS drug delivery by Abbott, N. Joan

“…The neurons of the central nervous system (CNS) require precise control of their bathing microenvironment for optimal function, and an important element in…”
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Promises and pitfalls of untargeted metabolomics by Gertsman, Ilya, Barshop, Bruce A.

“…Metabolomics is one of the newer omics fields, and has enabled researchers to complement genomic and protein level analysis of disease with both…”
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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients by Coene, Karlien L. M., Kluijtmans, Leo A. J., van der Heeft, Ed, Engelke, Udo F. H., de Boer, Siebolt, Hoegen, Brechtje, Kwast, Hanneke J. T., van de Vorst, Maartje, Huigen, Marleen C. D. G., Keularts, Irene M. L. W., Schreuder, Michiel F., van Karnebeek, Clara D. M., Wortmann, Saskia B., de Vries, Maaike C., Janssen, Mirian C. H., Gilissen, Christian, Engel, Jasper, Wevers, Ron A.

“…The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn…”
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Recent advances in understanding the molecular genetic basis of mitochondrial disease by Thompson, Kyle, Collier, Jack J., Glasgow, Ruth I. C., Robertson, Fiona M., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Oláhová, Monika, McFarland, Robert, Taylor, Robert W.

“…Mitochondrial disease is hugely diverse with respect to associated clinical presentations and underlying genetic causes, with pathogenic variants in over 300…”
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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision by Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall, Daniela, Koeller, David M., Krawinkel, Michael B., Okun, Jürgen G., Opladen, Thomas, Posset, Roland, Sahm, Katja, Zschocke, Johannes, Kölker, Stefan

“…Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase…”
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Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity by Reed, Thomas, Cohen Kadosh, Roi

“…In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial…”
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Disorders of riboflavin metabolism by Balasubramaniam, Shanti, Christodoulou, John, Rahman, Shamima

“…Riboflavin (vitamin B2), a water‐soluble vitamin, is an essential nutrient in higher organisms as it is not endogenously synthesised, with requirements being…”
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Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial by Schiffmann, Raphael, Goker‐Alpan, Ozlem, Holida, Myrl, Giraldo, Pilar, Barisoni, Laura, Colvin, Robert B., Jennette, Charles J., Maegawa, Gustavo, Boyadjiev, Simeon A., Gonzalez, Derlis, Nicholls, Kathy, Tuffaha, Ahmad, Atta, Mohamed G., Rup, Bonita, Charney, Martha R., Paz, Alona, Szlaifer, Mali, Alon, Sari, Brill‐Almon, Einat, Chertkoff, Raul, Hughes, Derralynn

“…Pegunigalsidase alfa, a novel PEGylated, covalently crosslinked form of α‐galactosidase A developed as enzyme replacement therapy (ERT) for Fabry disease (FD),…”
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MtDNA-maintenance defects: syndromes and genes by Viscomi, Carlo, Zeviani, Massimo

“…A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external…”
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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy by Burlina, Alberto B., Polo, Giulia, Salviati, Leonardo, Duro, Giovanni, Zizzo, Carmela, Dardis, Andrea, Bembi, Bruno, Cazzorla, Chiara, Rubert, Laura, Zordan, Roberta, Desnick, Robert J., Burlina, Alessandro P.

“…Background Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of…”
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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up by Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena‐Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández‐Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Õunap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczyńska, Małgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari‐Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

“…Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation…”
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