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	821.	Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey. [electronic resource] by Lagler, Florian B Moder, Angelika Rohrbach, Marianne Hennermann, Julia Mengel, Eugen Gökce, Seyfullah Hundsberger, Thomas Rösler, Kai M Karabul, Nesrin Huemer, Martina 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)
	822.	Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features. [electronic resource] by Langford, Bryony Besford, Megan Hall, Aimée Eddowes, Lucy Timmis, Oliver Gallagher, James A Ranganath, Lakshminarayan Publication details: JIMD reports 2018 In: JIMD reports vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	823.	Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. [electronic resource] by von Renesse, Anja Morales-Gonzalez, Susanne Gill, Esther Salomons, Gajja S Stenzel, Werner Schuelke, Markus Publication details: JIMD reports 2019 In: JIMD reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	824.	Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone. [electronic resource] by Davison, A S Norman, B P Smith, E A Devine, J Usher, J Hughes, A T Khedr, M Milan, A M Gallagher, J A Ranganath, L R Publication details: JIMD reports 2018 In: JIMD reports vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	825.	Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. [electronic resource] by Lee-Barber, Jasmine English, Taylor E Britton, Jacquelyn F Sobreira, Nara Goldstein, Jason Valle, David Bjornsson, Hans Tomas 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)
	826.	Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). [electronic resource] by Augustine, Erika F Beck, Christopher A Adams, Heather R Defendorf, Sara Vierhile, Amy Timm, Derek Weimer, Jill M Mink, Jonathan W Marshall, Frederick J Publication details: JIMD reports 2019 In: JIMD reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	827.	Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients. [electronic resource] by Hamilton, V Santa María, L Fuenzalida, K Morales, P Desviat, L R Ugarte, M Pérez, B Cabello, J F Cornejo, V Publication details: JIMD reports 2018 In: JIMD reports vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	828.	Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis. [electronic resource] by Schadewald, Amy Kimball, Ericka Ou, Li Publication details: JIMD reports 2018 In: JIMD reports vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	829.	The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria. [electronic resource] by Evans, Maureen Nguo, Kay Boneh, Avihu Truby, Helen Publication details: JIMD reports 2018 In: JIMD reports vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	830.	Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. [electronic resource] by Bursle, C Weintraub, R Ward, C Justo, R Cardinal, J Coman, D 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)
	831.	Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. [electronic resource] by Naik, Hetanshi Overbey, Jessica R Desnick, Robert J Anderson, Karl E Bissell, D Montgomery Bloomer, Joseph Bonkovsky, Herbert L Phillips, John D Wang, Bruce Singal, Ashwani Balwani, Manisha Publication details: JIMD reports Nov 2019 In: JIMD reports vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	832.	Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuria. [electronic resource] by Douglas, Teresa D Nucci, Anita M Berry, Ann M Henes, Sarah T Singh, Rani H Publication details: JIMD reports Nov 2019 In: JIMD reports vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	833.	Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [electronic resource] by Schwahn, Bernd C Scheffner, Thomas Stepman, Hedwig Verloo, Peter Das, Anibh M Fletcher, Janice Blom, Henk J Benoist, Jean-Francois Barshop, Bruce A Barea, Jaime J Feigenbaum, Annette Publication details: JIMD reports Mar 2020 In: JIMD reports vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	834.	The c.1A > C start codon mutation in [electronic resource] by Kuper, Willemijn F E van Alfen, Claudia van Eck, Linda de Man, Stella A Willemsen, Marjolein H van Gassen, Koen L I Losekoot, Monique van Hasselt, Peter M Publication details: JIMD reports Mar 2020 In: JIMD reports vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	835.	Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry using low cost derivatization and an automated liquid handler. [electronic resource] by Phipps, William S Crossley, Eric Boriack, Richard Jones, Patricia M Patel, Khushbu Publication details: JIMD reports Jan 2020 In: JIMD reports vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	836.	Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature. [electronic resource] by Molema, Femke Williams, Monique Langendonk, Janneke Darwish-Murad, Sarwa van de Wetering, Jacqueline Jacobs, Ed Onkenhout, Willem Brusse, Esther van der Eerden, Anke Wagenmakers, Margreet Publication details: JIMD reports Jan 2020 In: JIMD reports vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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