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	701.	A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease. [electronic resource] by Machaczka, Maciej Arce, Martin Paucar Rucinska, Malgorzata Yoshitake, Takashi Kehr, Jan Jurczak, Wojciech Skotnicki, Aleksander B Månsson, Jan-Erik Tylki-Szymanska, Anna Svenningsson, Per 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)
	702.	Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations. [electronic resource] by Caselli, Désirée Cimaz, Rolando Besio, Roberta Rossi, Antonio De Lorenzi, Ersilia Colombo, Raffaella Cantarini, Luca Riva, Silvia Spada, Marco Forlino, Antonella Aricò, Maurizio 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)
	703.	Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients. [electronic resource] by De Greef, Elisabeth Christodoulou, John Alexander, Ian E Shun, Albert O'Loughlin, Edward V Thorburn, David R Jermyn, Vicki Stormon, Michael O 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)
	704.	The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained. [electronic resource] by Wassenberg, Tessa Monnens, Leo A H Geurtz, Ben P B H Wevers, Ron A Verbeek, Marcel M Willemsen, Michèl A A P 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)
	705.	Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. [electronic resource] by Méndez, Manuel Granata, Barbara X Jiménez, María J Morán Parera, Victoria E Batlle, Alcira de Salamanca, Rafael Enríquez Rossetti, María V 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)
	706.	Lymphatic edema in congenital disorders of glycosylation. [electronic resource] by Verstegen, Ruud Hj Theodore, Miranda van de Klerk, Hans Morava, Eva 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)
	707.	Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II). [electronic resource] by Quaio, C R D C Grinberg, H Vieira, M L C Paula, A C Leal, G N Gomy, I Leistner-Segal, S Giugliani, R Bertola, D R Kim, C A 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)
	708.	Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience. [electronic resource] by Vanclooster, A Devlieger, R Meersseman, W Spraul, A Kerckhove, K Vande Vermeersch, P Meulemans, A Allegaert, K Cassiman, D 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)
	709.	Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. [electronic resource] by Manning, Nigel J Allen, Elizabeth K Kirk, Richard J Sharrard, Mark J Smith, Edwin J 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)
	710.	Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. [electronic resource] by Balasubramaniam, S Choy, Y S Talib, A Norsiah, M D van den Heuvel, L P Rodenburg, R J 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)
	711.	Expanding the Spectrum of PMM2-CDG Phenotype. [electronic resource] by Vuillaumier-Barrot, Sandrine Isidor, Bertrand Dupré, Thierry Le Bizec, Christiane David, Albert Seta, Nathalie 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)
	712.	The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. [electronic resource] by Peuscher, Rosanne Dijsselhof, Monique E Abeling, Nico G Van Rijn, Margreet Van Spronsen, Francjan J Bosch, Annet 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)
	713.	Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. [electronic resource] by Chang, Hye-Sook Shibata, Takako Arai, Satoshi Zhang, Chunhua Yabuki, Akira Mitani, Sawane Higo, Takashi Sunagawa, Kazuhiro Mizukami, Keijiro Yamato, Osamu Producer: 20130225 In: JIMD reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	714.	Cardiac Pathology in Glycogen Storage Disease Type III. [electronic resource] by Austin, S L Proia, A D Spencer-Manzon, M J Butany, J Wechsler, S B Kishnani, P S Producer: 20130225 In: JIMD reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	715.	Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria. [electronic resource] by Douglas, Teresa D Kennedy, Mary J Quirk, Meghan E Yi, Sarah H Singh, Rani H Producer: 20130515 In: JIMD reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	716.	Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease. [electronic resource] by Tanpaiboon, Pranoot Sloan, Jennifer L Callahan, Patrick F McAreavey, Dorothea Hart, P Suzanne Lichter-Konecki, Uta Zand, Dina Venditti, Charles P Producer: 20130515 In: JIMD reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	717.	MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. [electronic resource] by Finkenstedt, Armin Schranz, Melanie Bösch, Sylvia Karall, Daniela Bürgi, Sabine Scholl Ensinger, Christian Drach, Mathias Mayr, Johannes A Janecke, Andreas R Vogel, Wolfgang Nachbaur, David Zoller, Heinz Producer: 20130515 In: JIMD reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	718.	Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. [electronic resource] by Coughlin, Curtis R Hyland, Keith Randall, Rebecca Ficicioglu, Can Producer: 20130515 In: JIMD reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	719.	An exceptional family with three consecutive generations affected by Wilson disease. [electronic resource] by Bennett, James T Schwarz, Kathleen B Swanson, Phillip D Hahn, Si Houn Producer: 20130321 In: JIMD reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	720.	Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. [electronic resource] by Proudfoot, Malcolm Jardine, Philip Straukiene, Agne Noad, Rupert Parrish, Andrew Ellard, Sian Weatherby, Stuart Producer: 20130515 In: JIMD reports vol. 10 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.