Epidemiology of mucopolysaccharidoses
Shaukat Khan,Hira Peracha,Diana Ballhausen,Alfred Wiesbauer,Marianne Rohrbach,Matthias Gautschi,Robert W. Mason,Roberto Giugliani,Yasuyuki Suzuki,Kenji E. Orii,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +13 more
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TLDR
Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2017-07-01 and is currently open access. It has received 996 citations till now. The article focuses on the topics: Population.read more
Citations
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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
Leandra Jäggi,Marcel R. Zurflüh,Ágnes Schuler,Alberto Ponzone,Francesco Porta,L. Fiori,Marcello Giovannini,René Santer,Georg F. Hoffmann,Hans Ibel,Udo Wendel,Diana Ballhausen,Matthias R. Baumgartner,Nenad Blau +13 more
TL;DR: The data suggest that diagnosis within the first month of life is essential for a good outcome and that low CSF5 HIAA and HVA values in CSF could be an indicator for the ongoing developmental impairment.
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Adult phenylketonuria outcome and management
TL;DR: There is evidence that patients with higher blood phenylalanine (phe) levels demonstrate more often psychiatric symptoms like depression and anxiety, and the long term risk of a strict dietary treatment must be balanced with the risk of higher blood phe on cognitive and neuropsychological functions and psychiatric symptoms.
Journal ArticleDOI
Heterozygosity at catechol-O-methyltransferase Val158Met and schizophrenia: New data and meta-analysis
Javier Costas,Julio Sanjuán,Ramón Ramos-Ríos,Eduardo Paz,Santiago Agra,Jose Luis Ivorra,Mario Páramo,Julio Brenlla,Manuel Arrojo +8 more
TL;DR: The COMT functional polymorphism rs4680 contributes to schizophrenia genetic susceptibility under an overdominant model, indicating that both too high and too low levels of dopamine signalling may be risk factors.
Journal ArticleDOI
Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
Maureen Cleary,Friedrich K. Trefz,Ania C. Muntau,François Feillet,Francjan J. van Spronsen,Alberto Burlina,Amaya Belanger-Quintana,Maria Gizewska,Christoph Gasteyger,Esther Bettiol,Nenad Blau,Anita MacDonald +11 more
TL;DR: Although some evidence suggests that stabilization of blood Phenylalanine concentrations may have benefits in patients with PKU, more studies are needed to distinguish the effects of blood phenylalanines fluctuations from those of poor metabolic control.
Journal ArticleDOI
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
Natalie M. Gallant,Karen Leydiker,Hao Tang,Lisa Feuchtbaum,Fred Lorey,R.L. Puckett,Joshua L. Deignan,Julie Neidich,Naghmeh Dorrani,Erica Chang,Bruce A. Barshop,Stephen D. Cederbaum,Jose E. Abdenur,Raymond Y. Wang +13 more
TL;DR: The results suggest that confirmatory tests may be useful to differentiate patients with common variants from those with deleterious mutations, and that SCADD diagnosed by newborn screening presents largely as a benign condition.
References
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