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	781.	Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease. [electronic resource] by Ajay, Divya McNamara, Erin R Austin, Stephanie Wiener, John S Kishnani, Priya Publication details: JIMD reports 2016 In: JIMD reports vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	782.	In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease. [electronic resource] by van der Tol, Linda Verhamme, Camiel van Schaik, Ivo N van der Kooi, Anneke J Hollak, Carla E M Biegstraaten, Marieke Publication details: JIMD reports 2016 In: JIMD reports vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	783.	Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis. [electronic resource] by Balasubramaniam, Shanti Lewis, Barry Greed, Lawrence Meili, David Flier, Annegret Yamamoto, Raina Bilić, Karmen Till, Claudia Sass, Jörn Oliver 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)
	784.	Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency. [electronic resource] by Chantreuil, Julie Favrais, Géraldine Fakhri, Nadine Tardieu, Marine Roullet-Renoleau, Nicolas Perez, Thierry Travers, Nadine Barantin, Laurent Morel, Baptiste Saliba, Elie Labarthe, François 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)
	785.	Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. [electronic resource] by Lagoutte-Renosi, Jennifer Ségalas-Milazzo, Isabelle Crahes, Marie Renosi, Florian Menu-Bouaouiche, Laurence Torre, Stéphanie Lardennois, Caroline Rio, Marlène Marret, Stéphane Brasse-Lagnel, Carole Laquerrière, Annie Bekri, Soumeya Publication details: JIMD reports Oct 2015 In: JIMD reports p. None Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	786.	Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. [electronic resource] by Verma, Jyotsna Thomas, Divya C Kasper, David C Sharma, Sandeepika Puri, Ratna D Bijarnia-Mahay, Sunita Mistry, Pramod K Verma, Ishwar C Publication details: JIMD reports 2017 In: JIMD reports vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	787.	Coenzyme Q [electronic resource] by Yubero, Dèlia Montero, Raquel O'Callaghan, Mar Pineda, Mercè Meavilla, Silvia Delgadillo, Veronica Sierra, Cristina Altimira, Laura Navas, Plácido Pope, Simon Oppenheim, Marcus Neergheen, Viruna Ghosh, Arunabha Mills, Phillipa Clayton, Peter Footitt, Emma Cleary, Maureen Hargreaves, Iain Jones, Simon A Heales, Simon Artuch, Rafael 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)
	788.	Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. [electronic resource] by Bala, P Ferdinandusse, S Olpin, S E Chetcuti, P Morris, A A M 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)
	789.	SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature). [electronic resource] by Maas, Roeltje R Marina, Adela Della de Brouwer, Arjan P M Wevers, Ron A Rodenburg, Richard J Wortmann, Saskia B 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)
	790.	Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease. [electronic resource] by Różdżyńska-Świątkowska, Agnieszka Jurkiewicz, Elżbieta Tylki-Szymańska, Anna 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)
	791.	News on Clinical Details and Treatment in PGM1-CDG. [electronic resource] by Schrapers, Esther Tegtmeyer, Laura C Simic-Schleicher, Gunter Debus, Volker Reunert, Janine Balbach, Sebastian Klingel, Karin Du Chesne, Ingrid Seelhöfer, Anja Fobker, Manfred Marquardt, Thorsten Rust, Stephan 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)
	792.	Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity. [electronic resource] by Ahmed, A Rudser, K Kunin-Batson, A Delaney, K Whitley, C Shapiro, E 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)
	793.	High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia. [electronic resource] by Lawrence, Nicole T Chengsupanimit, Tayoot Brown, Laurie M Weinstein, David A 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)
	794.	Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series. [electronic resource] by Willandt, Barbara Langendonk, Janneke G Biermann, Katharina Meersseman, Wouter D'Heygere, François George, Christophe Verslype, Chris Monbaliu, Diethard Cassiman, David 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)
	795.	The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. [electronic resource] by Sirrs, S Hollak, C Merkel, M Sechi, A Glamuzina, E Janssen, M C Lachmann, R Langendonk, J Scarpelli, M Ben Omran, T Mochel, F Tchan, M C 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)
	796.	Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). [electronic resource] by Fiumara, Agata Barone, Rita Del Campo, Giuliana Striano, Pasquale Jaeken, Jaak 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)
	797.	Further Delineation of the ALG9-CDG Phenotype. [electronic resource] by AlSubhi, Sarah AlHashem, Amal AlAzami, Anas Tlili, Kalthoum AlShahwan, Saad Lefeber, Dirk Alkuraya, Fowzan S Tabarki, Brahim 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)
	798.	Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. [electronic resource] by Hwu, Wuh-Liang Chien, Yin-Hsiu Lee, Ni-Chung Li, Mei-Hsin Publication details: JIMD reports 2018 In: JIMD reports vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	799.	Cobalamin D Deficiency Identified Through Newborn Screening. [electronic resource] by Abu-El-Haija, Aya Mendelsohn, Bryce A Duncan, Jacque L Moore, Anthony T Glenn, Orit A Weisiger, Kara Gallagher, Renata C 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)
	800.	Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy. [electronic resource] by Madsen, Christoffer V Christensen, Erik Ilsø Nielsen, Rikke Mogensen, Helle Rasmussen, Åse K Feldt-Rasmussen, Ulla 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)

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Your search returned 836 results.