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	581.	Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. [electronic resource] by Bouvier, Damien Vianey-Saban, Christine Ruet, Séverine Acquaviva, Cécile Publication details: JIMD reports 2017 In: JIMD reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	582.	Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation. [electronic resource] by Varma, S McIntyre, A D Hegele, R A Publication details: JIMD reports 2017 In: JIMD reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	583.	Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. [electronic resource] by Minoia, Francesca Bertamino, Marta Picco, Paolo Severino, Mariasavina Rossi, Andrea Fiorillo, Chiara Minetti, Carlo Nesti, Claudia Santorelli, Filippo Maria Di Rocco, Maja Publication details: JIMD reports 2017 In: JIMD reports vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	584.	Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency. [electronic resource] by Coakley, Kathryn E Felner, Eric I Tangpricha, Vin Wilson, Peter W F Singh, Rani H Publication details: JIMD reports 2017 In: JIMD reports vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	585.	Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU). [electronic resource] by Medford, Emma Hare, Dougal Julian Carpenter, Katie Rust, Stewart Jones, Simon Wittkowski, Anja Publication details: JIMD reports 2017 In: JIMD reports vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	586.	Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. [electronic resource] by Welling, Lindsey Waisbren, Susan E Antshel, Kevin M Colhoun, Hugh-Owen Gautschi, Matthias Grünewald, Stephanie Holman, Rebecca van der Lee, Johanna H Treacy, Eileen P Bosch, Annet M Publication details: JIMD reports 2017 In: JIMD reports vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	587.	Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. [electronic resource] by Cappuccio, Gerarda Atwal, Paldeep S Donti, Taraka R Ugarte, Kiki Merchant, Nadia Craigen, William J Sutton, V Reid Elsea, Sarah H Publication details: JIMD reports 2017 In: JIMD reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	588.	First Successful Conception Induced by a Male Cystinosis Patient. [electronic resource] by Veys, Koenraad R D'Hauwers, Kathleen W van Dongen, Angelique J C M Janssen, Mirian C Besouw, Martine T P Goossens, Ellen van den Heuvel, Lambert P Wetzels, Alex A M M Levtchenko, Elena N Publication details: JIMD reports 2018 In: JIMD reports vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	589.	Erratum to: Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2. [electronic resource] by Ramanathan, N Ahmed, M Raffan, E Stewart, C L O'Rahilly, S Semple, R K Raef, H Rochford, J J Publication details: JIMD reports 2013 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	590.	Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening. [electronic resource] by Carling, R S Burden, D Hutton, I Randle, R John, K Bonham, J R Publication details: JIMD reports 2018 In: JIMD reports vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	591.	Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. [electronic resource] by Smith, Amanda McBride, Skye Marcadier, Julien L Michaud, Jean Al-Dirbashi, Osama Y Schwartzentruber, Jeremy Beaulieu, Chandree L Katz, Sherri L Majewski, Jacek Bulman, Dennis E Geraghty, Michael T Harper, Mary-Ellen Chakraborty, Pranesh Lines, Matthew A Publication details: JIMD reports 2016 In: JIMD reports vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	592.	Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants. [electronic resource] by Bachmann, Claude Kainz, Alexander Haschke-Becher, Elisabeth Publication details: JIMD reports 2017 In: JIMD reports vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	593.	Erratum to: Disease Heterogeneity in Na [electronic resource] by Anselm, Irina MacCuaig, Morgan Prabhu, Sanjay P Berry, Gerard T 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)
	594.	Newborn Screening for Vitamin B [electronic resource] by Okun, Jürgen G Gan-Schreier, Hongying Ben-Omran, Tawfeq Schmidt, Kathrin V Fang-Hoffmann, Junmin Gramer, Gwendolyn Abdoh, Ghassan Shahbeck, Noora Al Rifai, Hilal Al Khal, Abdul Latif Haege, Gisela Chiang, Chuan-Chi Kasper, David C Wilcken, Bridget Burgard, Peter Hoffmann, Georg F Publication details: JIMD reports 2017 In: JIMD reports vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	595.	Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. [electronic resource] by Hörster, Friederike Kölker, Stefan Loeber, J Gerard Cornel, Martina C Hoffmann, Georg F Burgard, Peter Publication details: JIMD reports 2017 In: JIMD reports vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	596.	Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review. [electronic resource] by Yamaguchi, Keiko Wakimizu, Rie Kubota, Mitsuru Publication details: JIMD reports 2017 In: JIMD reports vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	597.	Management of an LCHADD Patient During Pregnancy and High Intensity Exercise. [electronic resource] by van Eerd, D C D Brussé, I A Adriaens, V F R Mankowski, R T Praet, S F E Michels, M Langeveld, M Publication details: JIMD reports 2017 In: JIMD reports vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	598.	Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. [electronic resource] by Alkhzouz, Camelia Lazea, Cecilia Bucerzan, Simona Nascu, Ioana Kiss, Eva Denes, Carmencita Lucia Grigorescu-Sido, Paula Publication details: JIMD reports 2017 In: JIMD reports vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	599.	Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria. [electronic resource] by Waisbren, Susan E Prabhu, Sanjay P Greenstein, Patricia Petty, Carter Schomer, Donald Anastasoaie, Vera Charette, Kalin Rodriguez, Daniel Merugumala, Sai Lin, Alexander P Publication details: JIMD reports 2017 In: JIMD reports vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	600.	Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs. [electronic resource] by Ellsworth, Katarzyna A Pollard, Laura M Cathey, Sara Wood, Tim Publication details: JIMD reports 2017 In: JIMD reports vol. 34 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.