Search Results - "Hofstede, Floris"

Vitamin B6 in plasma and cerebrospinal fluid of children by Albersen, Monique, Bosma, Marjolein, Jans, Judith J M, Hofstede, Floris C, van Hasselt, Peter M, de Sain-van der Velden, Monique G M, Visser, Gepke, Verhoeven-Duif, Nanda M

“…Over the past years, the essential role of vitamin B6 in brain development and functioning has been recognized and genetic metabolic disorders resulting in…”
Get full text

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome by VanSickle, Elizabeth A., Michael, Julianne, Bachmann, André S., Rajasekaran, Surender, Prokop, Jeremy W., Kuzniecky, Ruben, Hofstede, Floris C., Steindl, Katharina, Rauch, Anita, Lipson, Mark H., Bupp, Caleb P.

“…Bachmann‐Bupp syndrome (BABS) is a rare syndrome caused by gain‐of‐function variants in the C‐terminus of ornithine decarboxylase (ODC coded by the ODC1 gene)…”
Get full text

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria by Kranendijk, Martijn, Struys, Eduard A, van Schaftingen, Emile, Gibson, K. Michael, Kanhai, Warsha A, van der Knaap, Marjo S, Amiel, Jeanne, Buist, Neil R, Das, Anibh M, de Klerk, Johannis B, Feigenbaum, Annette S, Grange, Dorothy K, Hofstede, Floris C, Holme, Elisabeth, Kirk, Edwin P, Korman, Stanley H, Morava, Eva, Morris, Andrew, Smeitink, Jan, Sukhai, Rám N, Vallance, Hilary, Jakobs, Cornelis, Salomons, Gajja S

“…Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders…”
Get full text

Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study by Jahja, Rianne, Huijbregts, Stephan C. J., de Sonneville, Leo M. J., van der Meere, Jaap J., Legemaat, Amanda M., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J.

“…Objective: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive…”
Get full text

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study by Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J.

“…Objective Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it…”
Get full text

Metabolic profiles in children during fasting by van Veen, Merel R, van Hasselt, Peter M, de Sain-van der Velden, Monique G M, Verhoeven, Nanda, Hofstede, Floris C, de Koning, Tom J, Visser, Gepke

“…Hypoglycemia is one of the most common metabolic derangements in childhood. To establish the cause of hypoglycemia, fasting tolerance tests can be used…”
Get full text

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study by Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J.

“…Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic…”
Get full text

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway by Vliet, Kimber, Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A. M., Jameson, Elisabeth A., Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E. M., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., Vries, Maaike C., Janssen, Mirian C. H., Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., Spronsen, Francjan J.

“…Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine–tyrosine metabolism. Neurocognitive and behavioral outcomes have…”
Get full text

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study by Khaikin, Yannay, Sidky, Sarah, Abdenur, Jose, Anastasi, Arnaud, Ballhausen, Diana, Buoni, Sabrina, Chan, Alicia, Cheillan, David, Dorison, Nathalie, Goldenberg, Alice, Goldstein, Jennifer, Hofstede, Floris C., Jacquemont, Marie-Line, Koeberl, Dwight D., Lion-Francois, Laurence, Lund, Allan Meldgaard, Mention, Karine, Mundy, Helen, O'Rourke, Declan, Pitelet, Gaele, Raspall-Chaure, Miquel, Tassini, Maria, Billette de Villemeur, Thierry, Williams, Monique, Salomons, Gajja S., Mercimek-Andrews, Saadet

“…Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and…”
Get full text

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study by Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L, Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C, Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Martinez-Pardo Casanova, Mercedes, Molina, Agustin, Pichard, Samia, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam

“…Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid…”
Get full text

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype by Anjema, Karen, van Rijn, Margreet, Hofstede, Floris C, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, Estela, de Vries, Maaike C, Janssen, Mirian C H, Boelen, Carolien C A, Burgerhof, Johannes G M, Blau, Nenad, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J

“…How to efficiently diagnose tetrahydrobiopterin (BH4) responsiveness in patients with phenylketonuria remains unclear. This study investigated the positive…”
Get full text

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study by Huijbregts, Stephan C.J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C.G.J., De Sonneville, Leo M.J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E.M., Janssen, Mirian C.H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J.

“…The aim of this study was to examine Health-Related Quality of Life (HRQoL) of patients with Phenylketonuria (PKU) in three different age groups and to…”
Get full text

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene by Mercimek-Mahmutoglu, Saadet, Ndika, Joseph, Kanhai, Warsha, de Villemeur, Thierry Billette, Cheillan, David, Christensen, Ernst, Dorison, Nathalie, Hannig, Vickie, Hendriks, Yvonne, Hofstede, Floris C., Lion-Francois, Laurence, Lund, Allan M., Mundy, Helen, Pitelet, Gaele, Raspall-Chaure, Miquel, Scott-Schwoerer, Jessica A., Szakszon, Katalin, Valayannopoulos, Vassili, Williams, Monique, Salomons, Gajja S.

“…ABSTRACT Guanidinoacetate methyltransferase deficiency (GAMT‐D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on…”
Get full text

Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities by van der Crabben, Saskia N., Harakalova, Magdalena, Brilstra, Eva H., van Berkestijn, Frédérique M.C., Hofstede, Floris C., van Vught, Adrianus J., Cuppen, Edwin, Kloosterman, Wigard, Ploos van Amstel, Hans Kristian, van Haaften, Gijs, van Haelst, Mieke M.

“…Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl…”
Get full text

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study by Demirdas, Serwet, Maurice-Stam, Heleen, Boelen, Carolien C.A., Hofstede, Floris C., Janssen, Mirian C.H., Langendonk, Janneke G., Mulder, Margot F., Rubio-Gozalbo, M. Estela, van Spronsen, Francjan J., de Vries, Maaike, Grootenhuis, Martha A., Bosch, Annet M.

“…Phenylketonuria (PKU) is a rare inborn error of metabolism caused by phenylalanine hydroxylase enzyme (PAH) deficiency. Treatment constitutes a strict Phe…”
Get full text

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value? by Anjema, Karen, Hofstede, Floris C, Bosch, Annet M, Rubio-Gozalbo, M Estela, de Vries, Maaike C, Boelen, Carolien C A, van Rijn, Margreet, van Spronsen, Francjan J

“…It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared…”
Get full text

Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study by Jahja, Rianne, Huijbregts, Stephan C.J., de Sonneville, Leo M.J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J.

“…This article presents a new Dutch multicenter study (“PKU-COBESO”) into cognitive and behavioral sequelae of early and continuously treated Phenylketonuria…”
Get full text

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria? by Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M.J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J.

“…Despite early and continuous treatment many patients with phenylketonuria (PKU) still experience neurocognitive problems. Most problems have been observed in…”
Get full text

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports by Ferreira, Elise A., Hofstede, Floris C., Haijes-Siepel, Hanneke A., Lichtenbelt, Klaske D., Pistorius, Lou, de Sain-van der Velden, Monique G.M., Nikkels, Peter G.J., Lequin, Maarten H., de Vries, Linda S., van der Crabben, Saskia N., van Hasselt, Peter M.

“…Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating…”
Get full text

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes by Chien, Yin-Hsiu, Abdenur, Jose E, Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G, Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, Floris, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H, Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Bürgi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G, Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, Blom, Henk J

“…This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound…”
Get full text