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	601.	The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency. [electronic resource] by Stepien, Karolina M Wierzbicki, Anthony S Poll-The, Bwee T Waterham, Hans R Hendriksz, Christian J 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)
	602.	Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients. [electronic resource] by Welsink-Karssies, M M Polderman, J A W Nieveen van Dijkum, E J Preckel, B Schlack, W S Visser, G Hollak, C E Hermanides, J 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)
	603.	Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. [electronic resource] by Hood, Anna Rutlin, Jerrel Shimony, Joshua S Grange, Dorothy K White, Desiree A 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)
	604.	Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme. [electronic resource] by Kemper, E A Boelen, A Bosch, A M van Veen-Sijne, M van Rijswijk, C N Bouva, M J Fingerhut, R Schielen, P C J I 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)
	605.	Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. [electronic resource] by Kunin-Batson, A S Shapiro, E G Rudser, K D Lavery, C A Bjoraker, K J Jones, S A Wynn, R F Vellodi, A Tolar, J Orchard, P J Wraith, J E 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)
	606.	Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases. [electronic resource] by Newell, Christopher Ramage, Barbara Nettel-Aguirre, Alberto Robu, Ion Khan, Aneal 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)
	607.	Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. [electronic resource] by Ganetzky, Rebecca D Bedoukian, Emma Deardorff, Matthew A Ficicioglu, Can 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)
	608.	Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. [electronic resource] by Rajabi, Farrah Rodan, Lance H Jonas, Maureen M Soul, Janet S Ullrich, Nicole J Wessel, Ann Waisbren, Susan E Tan, Wen-Hann Berry, Gerard T 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)
	609.	Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis. [electronic resource] by Rivers, E Reynolds, B C Bunn, S Leech, N J Straker, J Lambert, H J 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)
	610.	Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet. [electronic resource] by Ryder, B Moore, F Mitchell, A Thompson, S Christodoulou, J Balasubramaniam, S 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)
	611.	An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. [electronic resource] by Calvo, Pier Luigi Spada, Marco Rabbone, Ivana Pinon, Michele Porta, Francesco Cisarò, Fabio Reggiani, Stefania Cefalù, Angelo B Sturiale, Luisella Garozzo, Domenico Lefeber, Dirk J Jaeken, Jaak 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)
	612.	Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1. [electronic resource] by Guffon, Nathalie Bröijersén, Anders Palmgren, Ingrid Rudebeck, Mattias Olsson, Birgitta 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)
	613.	Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients. [electronic resource] by Lipiński, Patryk Pawłowska, Joanna Stradomska, Teresa Ciara, Elżbieta Jankowska, Irena Socha, Piotr Tylki-Szymańska, Anna 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)
	614.	Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1. [electronic resource] by Stepien, Karolina M Pastores, Gregory M Hendroff, Una McCormick, Ciara Fitzimons, Patricia Khawaja, Naveed Borovickova, Ingrid Treacy, Eileen P 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)
	615.	Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. [electronic resource] by Bursle, C Riney, K Stringer, J Moore, D Gole, G Kearns, L S Mackey, D A Coman, D 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)
	616.	Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. [electronic resource] by Sala, P Ruiz Ruijter, G Acquaviva, C Chabli, A de Sain-van der Velden, M G M Garcia-Villoria, J Heiner-Fokkema, M R Jeannesson-Thivisol, E Leckstrom, K Franzson, L Lynes, G Olesen, J Onkenhout, W Petrou, P Drousiotou, A Ribes, A Vianey-Saban, C Merinero, B 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)
	617.	Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. [electronic resource] by Miller, Marcus J Bostwick, Bret L Kennedy, Adam D Donti, Taraka R Sun, Qin Sutton, V Reid Elsea, Sarah H 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)
	618.	Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents. [electronic resource] by Zeltner, Nina A Landolt, Markus A Baumgartner, Matthias R Lageder, Sarah Quitmann, Julia Sommer, Rachel Karall, Daniela Mühlhausen, Chris Schlune, Andrea Scholl-Bürgi, Sabine Huemer, Martina 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)
	619.	Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. [electronic resource] by Brown, Amy Crowe, Louise Boneh, Avihu Anderson, Vicki 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)
	620.	Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. [electronic resource] by Anastasio, Natascia Tarailo-Graovac, Maja Al-Khalifah, Reem Legault, Laurent Drogemoller, Britt Ross, Colin J D Wasserman, Wyeth W van Karnebeek, Clara Buhas, Daniela 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)

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Your search returned 836 results.