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	321.	Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. [electronic resource] by Belachew, Dina Kazmerski, Traci Libman, Ingrid Goldstein, Amy C Stevens, Susan T Deward, Stephanie Vockley, Jerry Sperling, Mark A Balest, Arcangela L Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	322.	Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. [electronic resource] by Leung, Edward C W Mhanni, Aizeddin A Reed, Martin Whyte, Michael P Landy, Hal Greenberg, Cheryl R Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	323.	Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis. [electronic resource] by Danielsen, Else R Lund, Allan M Thomsen, Carsten Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	324.	Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation. [electronic resource] by Sharda, Sheetal Angurana, Suresh Kumar Walia, Mandeep Attri, Savita Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	325.	Early cardiac changes in children with anderson-fabry disease. [electronic resource] by Havranek, Stepan Linhart, Ales Urbanova, Zuzana Ramaswami, Uma Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	326.	Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. [electronic resource] by Kawashiri, Masa-Aki Tada, Hayato Hashimoto, Marowa Taniyama, Matsuo Nakano, Takamitsu Nakajima, Katsuyuki Inoue, Takeshi Mori, Mika Nakanishi, Chiaki Konno, Tetsuo Hayashi, Kenshi Nohara, Atsushi Inazu, Akihiro Koizumi, Junji Ishihara, Hirotaka Kobayashi, Junji Hirano, Tsutomu Mabuchi, Hiroshi Yamagishi, Masakazu Producer: 20150701 In: JIMD reports vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	327.	Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. [electronic resource] by Hahn, Andreas Praetorius, Susanne Karabul, Nesrin Dießel, Johanna Schmidt, Dorle Motz, Reinald Haase, Claudia Baethmann, Martina Hennermann, Julia B Smitka, Martin Santer, René Muschol, Nicole Meyer, Ann Marquardt, Thorsten Huemer, Martina Thiels, Charlotte Rohrbach, Marianne Seyfullah, Gökce Mengel, Eugen Producer: 20150327 In: JIMD reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	328.	Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria. [electronic resource] by Olsson, Birgitta Cox, Trevor F Psarelli, Eftychia E Szamosi, Johan Hughes, Andrew T Milan, Anna M Hall, Anthony K Rovensky, Jozef Ranganath, Lakshminarayan 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)
	329.	Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity. [electronic resource] by Schweitzer, George G Collier, Sara L Chen, Zhouji Eaton, James M Connolly, Anne M Bucelli, Robert C Pestronk, Alan Harris, Thurl E Finck, Brian N 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)
	330.	A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy. [electronic resource] by Vawter-Lee, M M Hallinan, B E Burrow, T A Spaeth, C G Arthur, T M 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)
	331.	High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. [electronic resource] by Lara, Marilis T Gurgel-Giannetti, Juliana Aguiar, Marcos J B Ladeira, Roberto V P Carvalho, Nara O Del Castillo, Dora M Viana, Marcos B Januario, José N 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)
	332.	The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis. [electronic resource] by Roberts, N B Curtis, S A Milan, A M 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)
	333.	Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments. [electronic resource] by Wadley, Virginia G McClure, Leslie A Warnock, David G Lassen-Greene, Caroline L Hopkin, Robert J Laney, Dawn A Clarke, Virginia M Kurella Tamura, Manjula Howard, George Sims, Katherine 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)
	334.	Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. [electronic resource] by Bijarnia-Mahay, Sunita Movva, Sireesha Gupta, Neerja Sharma, Deepak Puri, Ratna D Kotecha, Udhaya Saxena, Renu Kabra, Madhulika Mohan, Neelam Verma, Ishwar C Producer: 20150714 In: JIMD reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	335.	Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. [electronic resource] by Gramer, Gwendolyn Haege, Gisela Fang-Hoffmann, Junmin Hoffmann, Georg F Bartram, Claus R Hinderhofer, Katrin Burgard, Peter Lindner, Martin 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)
	336.	A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly. [electronic resource] by Lee, Jun Hwa van Kuilenburg, André B P Abeling, N G G M Vasta, Valeria Hahn, Si Houn Producer: 20150714 In: JIMD reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	337.	Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. [electronic resource] by Kölker, Stefan Dobbelaere, Dries Häberle, Johannes Burgard, Peter Gleich, Florian Summar, Marshall L Hannigan, Steven Parker, Samantha Chakrapani, Anupam Baumgartner, Matthias R Producer: 20150701 In: JIMD reports vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	338.	The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease. [electronic resource] by Amiri, Mahdi Kuech, Eva-Maria Shammas, Hadeel Wetzel, Gabi Naim, Hassan Y 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)
	339.	Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib. [electronic resource] by Melis, Daniela Minopoli, Giorgia Balivo, Francesca Marcolongo, Paola Parini, Rossella Paci, Sabrina Dionisi-Vici, Carlo Della Casa, Roberto Benedetti, Angelo Andria, Generoso Parenti, Giancarlo 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)
	340.	Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. [electronic resource] by Kärki, Mari Näntö-Salonen, Kirsti Niinikoski, Harri Tanner, Laura M 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)

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