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	381.	Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. [electronic resource] by Rodan, Lance Harrington Mishra, Navin Yau, Ivanna Andrade, Andrea Siriwardena, Komudi Tein, Ingrid Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	382.	Psychosocial aspects of predictive genetic testing for acute intermittent porphyria in norwegian minors. [electronic resource] by Andersen, Janice Sandberg, Sverre Raaheim, Maalfrid Gjengedal, Eva Producer: 20130225 In: JIMD reports vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	383.	Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. [electronic resource] by Tchan, Michel C Devine, Kerry T Sillence, David O Producer: 20130225 In: JIMD reports vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	384.	Cardiac arrest in kearns-sayre syndrome. [electronic resource] by van Beynum, Ingrid Morava, Eva Taher, Marjan Rodenburg, Richard J Karteszi, Judit Toth, Kalman Szabados, Eszter Producer: 20130225 In: JIMD reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	385.	Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. [electronic resource] by De Biase, Irene Champaigne, Neena Lorenzana Schroer, Richard Pollard, Laura Malinda Longo, Nicola Wood, Tim Producer: 20130225 In: JIMD reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	386.	Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years. [electronic resource] by Couce, M L Bóveda, M D Valerio, E Pérez-Muñuzuri, A Fraga, J M Producer: 20130225 In: JIMD reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	387.	Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. [electronic resource] by Casarano, M Alessandrì, M G Salomons, G S Moretti, E Jakobs, C Gibson, K M Cioni, G Battini, R Producer: 20130225 In: JIMD reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	388.	Differential expression of matrix metalloproteinases in the serum of patients with mucopolysaccharidoses. [electronic resource] by Batzios, Spyros P Zafeiriou, Dimitrios I Vargiami, Euthymia Karakiulakis, George Papakonstantinou, Eleni Producer: 20130225 In: JIMD reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	389.	Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. [electronic resource] by Tezcan, Kamer Louie, Kristal T Qu, Yong Velasquez, Jorge Zaldivar, Frank Rioseco-Camacho, Natalia Camacho, José Angel Producer: 20130225 In: JIMD reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	390.	Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. [electronic resource] by Siebert, Marina Bock, Hugo Michelin-Tirelli, Kristiane Coelho, Janice C Giugliani, Roberto Saraiva-Pereira, Maria Luiza Producer: 20130225 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	391.	Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease. [electronic resource] by Pisani, A Spinelli, L Visciano, B Capuano, I Sabbatini, M Riccio, E Messalli, G Imbriaco, M Producer: 20130225 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	392.	The mild form of menkes disease: a 34 year progress report on the original case. [electronic resource] by Tchan, M C Wilcken, B Christodoulou, J Producer: 20130225 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	393.	Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases. [electronic resource] by Komlósi, Katalin Maász, Anita Kisfali, Péter Hadzsiev, Kinga Bene, Judit Melegh, Béla I Melegh, Béla Ablonczy, Mária Németh, Krisztina Fekete, György Producer: 20130225 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	394.	Partial Pyridoxine Responsiveness in PNPO Deficiency. [electronic resource] by Pearl, Phillip L Hyland, Keith Chiles, J McGavin, Colleen L Yu, Yuezhou Taylor, Donald Producer: 20130225 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	395.	Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment. [electronic resource] by Myers, Kenneth A Reeves, Melanie Wei, Xing-Chang Khan, Aneal Producer: 20130225 In: JIMD reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	396.	Dietary protein counting as an alternative way of maintaining metabolic control in phenylketonuria. [electronic resource] by Sweeney, A L Roberts, R M Fletcher, J M Producer: 20130225 In: JIMD reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	397.	Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates. [electronic resource] by Paracchini, Valentina Seia, Manuela Raimondi, Sara Costantino, Lucy Capasso, Patrizia Porcaro, Luigi Colombo, Carla Coviello, Domenico A Mariani, Tiziana Manzoni, Emanuela Sangiovanni, Monica Corbetta, Carlo Producer: 20130225 In: JIMD reports vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	398.	Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis. [electronic resource] by Zoons, Evelien de Koning, Tom J Abeling, Nico G G M Tijssen, Marina A J Producer: 20130225 In: JIMD reports vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	399.	A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. [electronic resource] by Pervaiz, Muhammad Ali Gau, Gerald Jaffe, Allan S Saenger, Amy K Baudhuin, Linnea Ellison, Jay Producer: 20130225 In: JIMD reports vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	400.	Alkaptonuria: leading to the treasure in exceptions. [electronic resource] by Cox, Timothy M Producer: 20130225 In: JIMD reports vol. 5 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.