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	341.	Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's Disease. [electronic resource] by Lawrence, A Saini, J Sinha, S Rao, S Naggappa, M Bindu, P S Taly, A B Publication details: JIMD reports 2016 In: JIMD reports vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	342.	Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. [electronic resource] by Kiykim, Ertugrul Barut, Kenan Cansever, Mehmet Serif Zeybek, Cigdem Aktuglu Zubarioglu, Tanyel Aydin, Ahmet Kasapcopur, Ozgur Publication details: JIMD reports 2016 In: JIMD reports vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	343.	Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model. [electronic resource] by Kingma, Sandra D K Wagemans, Tom IJlst, Lodewijk Seppen, Jurgen Gijbels, Marion J J Wijburg, Frits A van Vlies, Naomi Producer: 20150630 In: JIMD reports vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	344.	Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. [electronic resource] by Biancheri, Roberta Lamantea, Eleonora Severino, Mariasavina Diodato, Daria Pedemonte, Marina Cassandrini, Denise Ploederl, Alexandra Trucco, Federica Fiorillo, Chiara Minetti, Carlo Santorelli, Filippo M Zeviani, Massimo Bruno, Claudio Producer: 20150630 In: JIMD reports vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	345.	Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. [electronic resource] by Maines, Evelina Morandi, Grazia Olivieri, Francesca Camilot, Marta Cavarzere, Paolo Gaudino, Rossella Antoniazzi, Franco Bordugo, Andrea Producer: 20150630 In: JIMD reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	346.	Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum. [electronic resource] by Alessandrì, Maria G Casarano, Manuela Pezzini, Ilaria Doccini, Stefano Nesti, Claudia Cioni, Giovanni Battini, Roberta Producer: 20141106 In: JIMD reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	347.	Antiepileptic medications increase osteoporosis risk in male fabry patients: bone mineral density in an Australian cohort. [electronic resource] by Talbot, Andrew Ghali, Joanna R Nicholls, Kathy Producer: 20141124 In: JIMD reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	348.	Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia. [electronic resource] by Rocha, Hugo Castiñeiras, Daisy Delgado, Carmen Egea, José Yahyaoui, Raquel González, Yolanda Conde, Manuel González, Inmaculada Rueda, Inmaculada Rello, Luis Vilarinho, Laura Cocho, José Producer: 20141106 In: JIMD reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	349.	Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience. [electronic resource] by Chadwick, S Fitzgerald, K Weiss, B Ficicioglu, C Producer: 20141030 In: JIMD reports vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	350.	Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. [electronic resource] by Brunham, Liam R Kang, Martin H Van Karnebeek, Clara Sadananda, Singh N Collins, Jennifer A Zhang, Lin-Hua Sayson, Bryan Miao, Fudan Stockler, Sylvia Frohlich, Jiri Cassiman, David Rabkin, Simon W Hayden, Michael R Producer: 20150317 In: JIMD reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	351.	Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease. [electronic resource] by Shimada, Yohta Nishimura, Erica Hoshina, Hiroo Kobayashi, Hiroshi Higuchi, Takashi Eto, Yoshikatsu Ida, Hiroyuki Ohashi, Toya Producer: 20150317 In: JIMD reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	352.	Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. [electronic resource] by Fraidakis, M J Liadinioti, C Stefanis, L Dinopoulos, A Pons, R Papathanassiou, M Garcia-Villoria, J Ribes, A Producer: 20150317 In: JIMD reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	353.	Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team. [electronic resource] by Malik, Sumaira NiMhurchadha, Sinead Jackson, Christina Eliasson, Lina Weinman, John Roche, Sandrine Walter, John Producer: 20150317 In: JIMD reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	354.	Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey. [electronic resource] by Karabul, Nesrin Skudlarek, Anika Berndt, Janine Kornblum, Cornelia Kley, Rudolf A Wenninger, Stephan Tiling, Nikolaus Mengel, Eugen Plöckinger, Ursula Vorgerd, Matthias Deschauer, Marcus Schoser, Benedikt Hanisch, Frank Producer: 20141124 In: JIMD reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	355.	Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. [electronic resource] by Atkinson, Celia Miousse, Isabelle R Watkins, David Rosenblatt, David S Raiman, Julian A J Producer: 20141124 In: JIMD reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	356.	Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series. [electronic resource] by Brown, Amy Crowe, Louise Beauchamp, Miriam H Anderson, Vicki Boneh, Avihu Producer: 20150317 In: JIMD reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	357.	Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study. [electronic resource] by Leuders, Sarah Wolfgart, Eva Ott, Torsten du Moulin, Marcel van Teeffelen-Heithoff, Agnes Vogelpohl, Lydia Och, Ulrike Marquardt, Thorsten Weglage, Josef Feldmann, Reinhold Rutsch, Frank Producer: 20140725 In: JIMD reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	358.	Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat. [electronic resource] by Wakitani, Shoichi Torisu, Shidow Yoshino, Taiki Hattanda, Kazuhisa Yamato, Osamu Tasaki, Ryuji Fujita, Haruo Nishino, Koichiro Producer: 20140725 In: JIMD reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	359.	High dietary folic Acid and high plasma folate in children and adults with phenylketonuria. [electronic resource] by Stølen, Linn Helene Lilje, Rina Jørgensen, Jens Veilemand Bliksrud, Yngve Thomas Almaas, Runar Producer: 20140725 In: JIMD reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	360.	Danon Disease Due to a Novel LAMP2 Microduplication. [electronic resource] by Lines, Matthew A Hewson, Stacy Halliday, William Sabatini, Peter J B Stockley, Tracy Dipchand, Anne I Bowdin, Sarah Siriwardena, Komudi Producer: 20141030 In: JIMD reports vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 836 results.