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Author Linda De Meirleir

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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Stefan Groeneweg, Robin P Peeters, Carla Moran, Athanasia Stoupa, Françoise Auriol, Davide Tonduti, Alice Dica, Laura Paone, Klara Rozenkova, Jana Malikova, Adri van der Walt, Irenaeus F M de Coo, Anne McGowan, Greta Lyons, Femke K Aarsen, Diana Barca, Ingrid M van Beynum, Marieke M van der Knoop, Jurgen Jansen, Martien Manshande, Roelineke J Lunsing, Stan Nowak, Corstiaan A den Uil, M Carola Zillikens, Frank E Visser, Paul Vrijmoeth, Marie Claire Y de Wit, Nicole I Wolf, Angelique Zandstra, Gautam Ambegaonkar, Yogen Singh, Yolanda B de Rijke, Marco Medici, Enrico S Bertini, Sylvia Depoorter, Jan Lebl, Marco Cappa, Linda De Meirleir, Heiko Krude, Dana Craiu, Federica Zibordi, Isabelle Oliver Petit, Michel Polak, Krishna Chatterjee, Theo J Visser, W Edward Visser,

BACKGROUND:Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T3) concentrations (Allan-Herndon-Dudley syndrome). This chronic thyrotoxicosis leads to progressive deterioration in bodyweight, tachycardia, and muscle wasting, predisposing affected individuals to substantial morbidity and mortality. Treatment that safely alleviates peripheral ... Read more >>

Lancet Diabetes Endocrinol (The lancet. Diabetes & endocrinology)
[2019, 7(9):695-706]

Cited: 1 time

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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Elizabeth Jennions, Carola Hedberg-Oldfors, Anna-Karin Berglund, Gittan Kollberg, Carl-Johan Törnhage, Erik A Eklund, Anders Oldfors, Patrick Verloo, Arnaud V Vanlander, Linda De Meirleir, Sara Seneca, Fredrik H Sterky, Niklas Darin,

Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with recurrent crises involving rhabdomyolysis, cardiac arrhythmias, and metabolic derangements. The disease is not well understood, in part as the cellular function and subcellular localization of the TANGO2 ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, 42(5):898-908]

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L I van Gassen, L Bert van den Heuvel, Linda De Meirleir,

Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, long-term complications may develop. We have analyzed the biochemical and clinical responses in five patients with early ... Read more >>

JIMD Rep (JIMD reports)
[2019, 49(1):70-79]

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Research activity and capability in the European reference network MetabERN.

Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, ,

BACKGROUND:MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient's rights in cross border healthcare. MetabERN associates 69 centres in 18 countries, which provide care for patients with Hereditary Metabolic Diseases, and have the mission to reinforce research and provide training ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):119]

Cited: 1 time

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Roland Posset, Sven F Garbade, Nikolas Boy, Alberto B Burlina, Carlo Dionisi-Vici, Dries Dobbelaere, Angeles Garcia-Cazorla, Pascale de Lonlay, Elisa Leão Teles, Roshni Vara, Nicholas Ah Mew, Mark L Batshaw, Matthias R Baumgartner, Shawn E McCandless, Jennifer Seminara, Marshall Summar, Georg F Hoffmann, Stefan Kölker, Peter Burgard, ,

BACKGROUND:To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. AIMS:Description of the NA and EU patient samples and investigation of the prospects of combined and comparative analyses for individuals with UCDs. METHODS:Retrieval and comparison of the data from ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, 42(1):93-106]

Cited: 1 time

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Clinical implementation of gene panel testing for lysosomal storage diseases.

Alexander Gheldof, Sara Seneca, Katrien Stouffs, Willy Lissens, Anna Jansen, Hilde Laeremans, Patrick Verloo, An-Sofie Schoonjans, Marije Meuwissen, Diana Barca, Geert Martens, Linda De Meirleir,

BACKGROUND:The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing. However, due to the sequential nature of this methodology and inconsistent genotype-phenotype correlations of ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(2):e00527]

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International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Rossella Parini, Alexander Broomfield, Maureen A Cleary, Linda De Meirleir, Maja Di Rocco, Waseem M Fathalla, Nathalie Guffon, Christina Lampe, Allan M Lund, Maurizio Scarpa, Anna Tylki-Szymańska, Jiří Zeman,

AIM:Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. METHODS:An international working group was ... Read more >>

Acta Paediatr. (Acta paediatrica (Oslo, Norway : 1992))
[2018, 107(12):2059-2065]

Cited: 1 time

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J M Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F M de Coo, Isabella Moroni, Joél Smet, Johannes A Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann,

BACKGROUND:Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. RESULTS:We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):120]

Cited: 2 times

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Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Anna Tylki-Szymańska, Anna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, Waseem M Fathalla, Nathalie Guffon, Christina Lampe, Allan M Lund, Rossella Parini, Frits A Wijburg, Jiri Zeman, Maurizio Scarpa,

AIM:The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). METHODS:An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real-world clinical cases, selected key signs or ... Read more >>

Acta Paediatr. (Acta paediatrica (Oslo, Norway : 1992))
[2018, 107(8):1402-1408]

Cited: 1 time

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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, Elisa Leão Teles, Carlo Dionisi-Vici, Anaïs Brassier, Alberto B Burlina, Peter Burgard, Elisenda Cortès-Saladelafont, Dries Dobbelaere, Maria L Couce, Jolanta Sykut-Cegielska, Johannes Häberle, Allan M Lund, Anupam Chakrapani, Manuel Schiff, John H Walter, Jiri Zeman, Roshni Vara, Stefan Kölker, ,

Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly. ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2018, 41(4):743-744]

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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Jana Heringer, Vassili Valayannopoulos, Allan M Lund, Frits A Wijburg, Peter Freisinger, Ivo Barić, Matthias R Baumgartner, Peter Burgard, Alberto B Burlina, Kimberly A Chapman, Elisenda Cortès I Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut-Cegielska, John H Walter, Jiri Zeman, Brigitte Chabrol, Stefan Kölker, ,

Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly. ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2018, 41(4):741-742]

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Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Katrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, Laura Vandervore, Alice Dica, Mikaël Mathot, Kathelijn Keymolen, Sara Seneca, Alexander Gheldof, Linda De Meirleir, Anna C Jansen,

Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2018, 61(12):733-737]

Cited: 1 time

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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.

Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, Christine I Dali, Linda De Meirleir, Mercedes Gil-Campos, Bénédicte Heron, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Jens Fogh, J M Hannerieke Van den Hout, Michael Beck, Simon A Jones, Anna Tylki-Szymanska, Ulla Haugsted, Allan M Lund,

INTRODUCTION:This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha-mannosidosis (AM) patients. METHODS:Twenty-five patients were randomised to weekly 1 mg/kg VA or placebo for 52 weeks. At study conclusion, placebo patients switched to VA; 23 patients continued receiving ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2018, 41(6):1215-1223]

Cited: 1 time

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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.

Allan M Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J M Hannerieke Van den Hout, Simon A Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon,

INTRODUCTION:Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). METHODS:Patient data (n = 33; 14 adults, 19 paediatric) from the clinical development programme for velmanase alfa were integrated in this prospectively-designed analysis of long-term ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2018, 41(6):1225-1233]

Cited: 2 times

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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Eline M C Hamilton, Pinar Tekturk, Fia Cialdella, Diane F van Rappard, Nicole I Wolf, Cengiz Yalcinkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zuhal Yapici, Vlatka Mejaški Bošnjak, Marjo S van der Knaap, ,

OBJECTIVE:To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. METHODS:We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was ... Read more >>

Neurology (Neurology)
[2018, 90(16):e1395-e1403]

Cited: 5 times

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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal K Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Saskia B Wortmann,

OBJECTIVE:3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS:This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. RESULTS:Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median ... Read more >>

Ann. Neurol. (Annals of neurology)
[2017, 82(6):1004-1015]

Cited: 6 times

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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Tuula Lönnqvist, Laurence Albert Bindoff, Már Tulinius, Niklas Darin,

BACKGROUND:Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored. OBJECTIVE:We aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients. METHODS:We studied 96 patients with ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2018, 55(1):21-27]

Cited: 7 times

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Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder.

Eva Cloet, Mark Leys, Linda De Meirleir,

Dev Med Child Neurol (Developmental medicine and child neurology)
[2017, 59(12):1215-1216]

Cited: 0 times

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X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, Marisa W Friederich, Gunter Scharer, Daniel Helbling, Jamie Wendt-Andrae, Johan L K Van Hove,

Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia.We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2017, 71:65-69]

Cited: 1 time

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PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.

Renate Zeevaert, Emmanuel Scalais, Laura Muino Mosquera, Linda De Meirleir, Carine De Beaufort, Michael Witsch, Jaak Jaeken, Jean De Schepper,

Phosphoglucomutase 1 (PGM1) deficiency, first described as a glycogenosis (type XIV) is also a congenital disorder of glycosylation (CDG). We want to illustrate the wide clinical spectrum of PGM1 deficiency and in particular the associated disturbance in glucose metabolism and the endocrine dysfunction. Treatment with d-galactose is experimental.PGM1 deficiency was ... Read more >>

Acta Clin Belg (Acta clinica Belgica)
[2016, 71(6):435-437]

Cited: 2 times

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Johannes R Lemke, Kirsten Geider, Katherine L Helbig, Henrike O Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Heron, Rikke S Møller, Helle Hjalgrim, Dennis Lal, Bernd A Neubauer, Peter Nürnberg, Holger Thiele, Gerhard Kurlemann, Georgianne L Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis J Dlugos, Emily S Doherty, Emilia K Bijlsma, Claudia A Ruivenkamp, Mariette J V Hoffer, Amy Goldstein, Deepa S Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P C Koeleman, Joaquim Sá, Carla Mendonça, Carolien G F de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meirleir, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L Michaud, Bodo Laube, Steffen Syrbe,

To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes.We identified heterozygous de novo GRIN1 ... Read more >>

Neurology (Neurology)
[2016, 86(23):2171-2178]

Cited: 33 times

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Effect of supporting 3D-garment on gait postural stability in children with bilateral spastic cerebral palsy.

Marc Degelaen, Ludo De Borre, Ronald Buyl, Eric Kerckhofs, Linda De Meirleir, Bernard Dan,

Children with cerebral palsy show dysfunctional postural control which interferes with their functional performance and daily-life activities.The aim of the study was to identify the effect of a 3D supporting garment on trunk postural control and interjoint coordination during gait in children with bilateral cerebral palsy.We analyzed tridimensional trunk motion, ... Read more >>

NeuroRehabilitation (NeuroRehabilitation)
[2016, 39(2):175-181]

Cited: 1 time

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Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir,

Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2016, 170(7):1799-1805]

Cited: 1 time

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Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Peter Witters, Luc Régal, Hans R Waterham, Linda De Meirleir, Ronald J A Wanders, Eva Morava,

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2016, 170(6):1642-1646]

Cited: 2 times

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Impact of age at onset and newborn screening on outcome in organic acidurias.

Jana Heringer, Vassili Valayannopoulos, Allan M Lund, Frits A Wijburg, Peter Freisinger, Ivo Barić, Matthias R Baumgartner, Peter Burgard, Alberto B Burlina, Kimberly A Chapman, Elisenda Cortès I Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut-Cegielska, John H Walter, Jiri Zeman, Jiri Zeman, Brigitte Chabrol, Stefan Kölker, ,

BACKGROUND AND AIM:To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. METHODS:Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2016, 39(3):341-353]

Cited: 11 times

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