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	1.	Accumulation of ordered ceramide-cholesterol domains in farber disease fibroblasts. [electronic resource] by Ferreira, Natalia Santos Goldschmidt-Arzi, Michal Sabanay, Helena Storch, Judith Levade, Thierry Ribeiro, Maria Gil Addadi, Lia Futerman, Anthony H Producer: 20140122 In: JIMD reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Motor and speech disorders in classic galactosemia. [electronic resource] by Potter, Nancy L Nievergelt, Yves Shriberg, Lawrence D 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)
	3.	Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. [electronic resource] by Backe, Paul Hoff Ytre-Arne, Mari Røhr, Asmund Kjendseth Brodtkorb, Else Fowler, Brian Rootwelt, Helge Bjørås, Magnar Mørkrid, Lars 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)
	4.	Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate. [electronic resource] by Gavin, M Wen, G Y Messing, J Adelman, S Logush, A Jenkins, E C Brown, W T Velinov, M 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)
	5.	Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. [electronic resource] by Gaignard, Pauline Gonzales, Emmanuel Ackermann, Oanez Labrune, Philippe Correia, Isabelle Therond, Patrice Jacquemin, Emmanuel Slama, Abdelhamid 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)
	6.	Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects. [electronic resource] by Uribe, Alfredo Giugliani, Roberto 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)
	7.	Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations. [electronic resource] by Fridman, Elena Zeharia, Avraham Markus-Eidlitz, Tal Haimi Cohen, Yishai 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)
	8.	Successful management of enzyme replacement therapy in related fabry disease patients with severe adverse events by switching from agalsidase Beta (fabrazyme(®)) to agalsidase alfa (replagal (®)). [electronic resource] by Tsuboi, Kazuya Yamamoto, Hiroshi Somura, Fuji Goto, Hiromi 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)
	9.	Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood. [electronic resource] by Lidove, Olivier Sedel, Frédéric Charlotte, Frédéric Froissart, Roseline Vanier, Marie T 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)
	10.	Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report. [electronic resource] by Stewart, R M K Briggs, M C Jarvis, J C Gallagher, J A Ranganath, 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)
	11.	Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry. [electronic resource] by Al-Dirbashi, Osama Y McIntosh, Nathan McRoberts, Christine Fisher, Larry Rashed, Mohamed S Makhseed, Nawal Geraghty, Michael T Santa, Tomofumi Chakraborty, Pranesh 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)
	12.	The complexity of newborn screening follow-up in phenylketonuria. [electronic resource] by Hecht, Leah E Wessel, Ann E Levy, Harvey L Berry, Gerard T 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)
	13.	AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. [electronic resource] by Falk, Marni J Li, Dong Gai, Xiaowu McCormick, Elizabeth Place, Emily Lasorsa, Francesco M Otieno, Frederick G Hou, Cuiping Kim, Cecilia E Abdel-Magid, Nada Vazquez, Lyam Mentch, Frank D Chiavacci, Rosetta Liang, Jinlong Liu, Xuanzhu Jiang, Hui Giannuzzi, Giulia Marsh, Eric D Yiran, Guo Tian, Lifeng Palmieri, Ferdinando Hakonarson, Hakon 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)
	14.	Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. [electronic resource] by Lampe, Christina Atherton, Andrea Burton, Barbara K Descartes, Maria Giugliani, Roberto Horovitz, Dafne D G Kyosen, Sandra O Magalhães, Tatiana S P C Martins, Ana Maria Mendelsohn, Nancy J Muenzer, Joseph Smith, Laurie D 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)
	15.	Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. [electronic resource] by Simon, Mariella Chang, Richard C Bali, Deeksha S Wong, Lee-Jun Peng, Ying Abdenur, Jose E 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)
	16.	Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers. [electronic resource] by Koene, Saskia de Laat, Paul van Tienoven, Doorlène H Weijers, Gert Vriens, Dennis Sweep, Fred C G J Timmermans, Janneke Kapusta, Livia Janssen, Mirian C H Smeitink, Jan A 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)
	17.	Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion. [electronic resource] by Schene, Imre F Kalinina Ayuso, Viera de Sain-van der Velden, Monique van Gassen, Koen L I Cuppen, Inge van Hasselt, Peter M Visser, Gepke 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)
	18.	Causes of Death in Adults with Mitochondrial Disease. [electronic resource] by Barends, Marlieke Verschuren, Lotte Morava, Eva Nesbitt, Victoria Turnbull, Doug McFarland, Robert Producer: 20160512 In: JIMD reports vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. [electronic resource] by Pontoizeau, Clément Habarou, Florence Brassier, Anaïs Veauville-Merllié, Alice Grisel, Coraline Arnoux, Jean-Baptiste Vianey-Saban, Christine Barouki, Robert Chadefaux-Vekemans, Bernadette Acquaviva, Cécile de Lonlay, Pascale Ottolenghi, Chris Producer: 20160512 In: JIMD reports vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders. [electronic resource] by Fernandez-Guerra, Paula Lund, M Corydon, T J Cornelius, N Gregersen, N Palmfeldt, J Bross, Peter Producer: 20160512 In: JIMD reports vol. 27 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.