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	801.	I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease. [electronic resource] by Edmiston, Rachel Wilkinson, Stuart Jones, Simon Tylee, Karen Broomfield, Alexander Bruce, Iain A Publication details: JIMD reports 2019 In: JIMD reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	802.	Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. [electronic resource] by Wild, Katherine Taylor Ganetzky, Rebecca D Yudkoff, Marc Ierardi-Curto, Lynne Publication details: JIMD reports 2019 In: JIMD reports vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	803.	Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? [electronic resource] by Schene, Imre F Korenke, Christoph G Huidekoper, Hidde H van der Pol, Ludo Dooijes, Dennis Breur, Johannes M P J Biskup, Saskia Fuchs, Sabine A Visser, Gepke Publication details: JIMD reports 2019 In: JIMD reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	804.	Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy. [electronic resource] by Kitzler, Thomas M Gupta, Indra R Osterman, Bradley Poulin, Chantal Trakadis, Yannis Waters, Paula J Buhas, Daniela C Publication details: JIMD reports 2019 In: JIMD reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	805.	Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency. [electronic resource] by McPheron, Molly Lah, Melissa Publication details: JIMD reports 2019 In: JIMD reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	806.	Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series. [electronic resource] by Fernández, Pehuén Fernández, Shunko Oscar Gonzalez, Jacqueline Griselda Mariela Fernández, Tabaré Fernández, Cinthia Claudia Fernández, Segundo Pastor Publication details: JIMD reports 2019 In: JIMD reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	807.	An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study. [electronic resource] by Marques-da-Silva, D Francisco, R Dos Reis Ferreira, V Forbat, L Lagoa, R Videira, P A Witters, P Jaeken, J Cassiman, D Publication details: JIMD reports 2019 In: JIMD reports vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	808.	A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia. [electronic resource] by Lee, Tomoko Takami, Yuichi Yamada, Kenji Kobayashi, Hironori Hasegawa, Yuki Sasai, Hideo Otsuka, Hiroki Takeshima, Yasuhiro Fukao, Toshiyuki Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	809.	A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( [electronic resource] by Bedoyan, Jirair K Hecht, Leah Zhang, Shulin Tarrant, Stacey Bergin, Ann Demirbas, Didem Yang, Edward Shin, Ha Kyung Grahame, George J DeBrosse, Suzanne D Hoppel, Charles L Kerr, Douglas S Berry, Gerard T Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	810.	None [electronic resource] by Yap, Sufin Gougeard, Nadine Hart, Anthony R Barcelona, Belén Rubio, Vicente Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	811.	A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia. [electronic resource] by Mayanskiy, Nikolay Brzhozovskaya, Ekaterina Pushkov, Alexander Strokova, Tatiana Vlasov, Nikolay Surkov, Andrej Gundobina, Olga Savostianov, Kirill Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	812.	Domino liver transplantation for select metabolic disorders: Expanding the living donor pool. [electronic resource] by Celik, Neslihan Squires, James E Soltys, Kyle Vockley, Jerry Shellmer, Diana A Chang, Wonbae Strauss, Kevin McKiernan, Patrick Ganoza, Armando Sindhi, Rakesh Bond, Geoffrey Mazariegos, George Khanna, Ajai Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	813.	A fatal case of [electronic resource] by Kwong, Anna K-Y Chiu, Annie T-G Tsang, Mandy H-Y Lun, Kin-Shing Rodenburg, Richard J T Smeitink, Jan Chung, Brian H-Y Fung, Cheuk-Wing Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	814.	Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase. [electronic resource] by Peters, Verena Morath, Marina Mack, Matthias Liesert, Michael Buckel, Wolfgang Hoffmann, Georg F Vockley, Jerry Ghisla, Sandro Zschocke, Johannes Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	815.	The genetic and biochemical basis of trimethylaminuria in an Irish cohort. [electronic resource] by Doyle, Samantha O'Byrne, James J Nesbitt, Mandy Murphy, Daniel N Abidin, Zaza Byrne, Niall Pastores, Gregory Kirk, Richard Treacy, Eileen P Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	816.	Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy. [electronic resource] by Langan, Thomas J Barczykowski, Amy Jalal, Kabir Sherwood, Laura Allewelt, Heather Kurtzberg, Joanne Carter, Randy L Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	817.	A rare late progression form of Sly syndrome mucopolysaccharidosis. [electronic resource] by Guffon, Nathalie Froissart, Roseline Fouilhoux, Alain Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	818.	Education and training in adult metabolic medicine: Results of an international survey. [electronic resource] by Sechi, Annalisa Fabbro, Elisa Langeveld, Mirjam Tullio, Annarita Lachmann, Robin Mochel, Fanny Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	819.	Clinical findings in Brazilian patients with adult GM1 gangliosidosis. [electronic resource] by Giugliani, Luciana Steiner, Carlos Eduardo Kim, Chong Ae Lourenço, Charles Marques Santos, Mara Lucia Schmitz Ferreira de Souza, Carolina Fischinger Moura Brusius-Facchin, Ana Carolina Baldo, Guilherme Riegel, Mariluce Giugliani, Roberto Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	820.	Clinical and neurophysiological characteristics of heterozygous [electronic resource] by Benussi, Alberto Cotelli, Maria S Cantoni, Valentina Bertasi, Valeria Turla, Marinella Dardis, Andrea Biasizzo, Jessica Manenti, Rosa Cotelli, Maria Padovani, Alessandro Borroni, Barbara Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 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.