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	741.	Perioperative medullary complications in spinal and extra-spinal surgery in mucopolysaccharidosis: a case series of three patients. [electronic resource] by Pauchard, N Garin, C Jouve, J L Lascombes, P Journeau, P 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)
	742.	Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. [electronic resource] by Helman, Guy Pappa, Maria Belen Pearl, Phillip L 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)
	743.	Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. [electronic resource] by Lee, Dong-Hwan Qiu, Wen-Juan Lee, Jeongho Chien, Yin-Hsiu Hwu, Wuh-Liang 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)
	744.	Revised proposal for the prevention of low bone mass in patients with classic galactosemia. [electronic resource] by van Erven, Britt Römers, Myrna M M Rubio-Gozalbo, M Estela 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)
	745.	Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. [electronic resource] by Shimada, Tsutomu Tomatsu, Shunji Yasuda, Eriko Mason, Robert W Mackenzie, William G Shibata, Yuniko Kubaski, Francyne Giugliani, Roberto Yamaguchi, Seiji Suzuki, Yasuyuki Orii, Kenji Orii, Tadao 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)
	746.	Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. [electronic resource] by Pyhtila, Brook M Shaw, Kelly A Neumann, Samantha E Fridovich-Keil, Judith L Producer: 20141219 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	747.	Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. [electronic resource] by Sudarsanam, Annapurna Singh, Harry Wilcken, Bridget Stormon, Michael Arbuckle, Susan Schmitt, Bernhard Clayton, Peter Earl, John Webster, Richard 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)
	748.	A Cause of Permanent Ketosis: GLUT-1 Deficiency. [electronic resource] by Chenouard, Alexis Vuillaumier-Barrot, Sandrine Seta, Nathalie Kuster, Alice 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)
	749.	Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria. [electronic resource] by Genovese, F Siebuhr, A S Musa, K Gallagher, J A Milan, A M Karsdal, M A Rovensky, J Bay-Jensen, A C Ranganath, L R Producer: 20150925 In: JIMD reports vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	750.	Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. [electronic resource] by David, Dezső Almeida, Lígia S Maggi, Maristella Araújo, Carlos Imreh, Stefan Valentini, Giovanna Fekete, György Haltrich, Irén 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)
	751.	Mutations in GMPPB Presenting with Pseudometabolic Myopathy. [electronic resource] by Panicucci, Chiara Fiorillo, Chiara Moro, Francesca Astrea, Guja Brisca, Giacomo Trucco, Federica Pedemonte, Marina Lanteri, Paola Sciarretta, Lucia Minetti, Carlo Santorelli, Filippo M Bruno, Claudio Publication details: JIMD reports 2018 In: JIMD reports vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	752.	Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. [electronic resource] by Wong, Evelyn M Lehman, Anna Acott, Philip Gillis, Jane Metzger, Daniel L Sirrs, Sandra Publication details: JIMD reports 2017 In: JIMD reports vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	753.	An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. [electronic resource] by Schulenburg-Brand, Danja Gardiner, Tricia Guppy, Simon Rees, David C Stein, Penelope Barth, Julian Felicity Stewart, M Badminton, Michael Publication details: JIMD reports 2017 In: JIMD reports vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	754.	White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother. [electronic resource] by Anna, Tokola Nina, Brandstack Antti, Hakkarainen Eero, Salli Laura, Åberg Taina, Autti Publication details: JIMD reports 2017 In: JIMD reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	755.	Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. [electronic resource] by van Erven, Britt Welling, Lindsey van Calcar, Sandra C Doulgeraki, Artemis Eyskens, François Gribben, Joanna Treacy, Eileen P Vos, Rein Waisbren, Susan E Rubio-Gozalbo, M Estela Bosch, Annet M Publication details: JIMD reports 2017 In: JIMD reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	756.	Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]. [electronic resource] by Lehtonen, Annukka Rust, Stewart Jones, Simon Brown, Richard Hare, Dougal Publication details: JIMD reports 2018 In: JIMD reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	757.	Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. [electronic resource] by Huffnagel, Irene C Redeker, Egbert J W Reneman, Liesbeth Vaz, Frédéric M Ferdinandusse, Sacha Poll-The, Bwee Tien Publication details: JIMD reports 2018 In: JIMD reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	758.	Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency. [electronic resource] by Creanza, Annalisa Cotugno, Mariella Mazzaccara, Cristina Frisso, Giulia Parenti, Giancarlo Capaldo, Brunella Publication details: JIMD reports 2018 In: JIMD reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	759.	The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. [electronic resource] by Vals, Mari-Anne Pajusalu, Sander Kals, Mart Mägi, Reedik Õunap, Katrin Publication details: JIMD reports 2018 In: JIMD reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	760.	Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway. [electronic resource] by Arning, Erland Bottiglieri, Teodoro Publication details: JIMD reports 2016 In: JIMD reports vol. 29 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.