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	1.	Heteromeric amino acid transporters explain inherited aminoacidurias. [electronic resource] by Palacín, M Bertran, J Zorzano, A Producer: 20010202 In: Current opinion in nephrology and hypertension vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Glut1 deficiency syndrome and novel ketogenic diets. [electronic resource] by Klepper, Joerg Leiendecker, Baerbel Producer: 20140221 In: Journal of child neurology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Hypocarnitinemia in lysinuric protein intolerance. [electronic resource] by Korman, Stanley H Raas-Rothschild, Annick Elpeleg, Orly Gutman, Alisa Producer: 20030117 In: Molecular genetics and metabolism vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Primary chronic metabolic acidosis with organic aciduria. [electronic resource] by Lowe, C U Bruck, E Producer: 20000701 In: Bibliotheca paediatrica no. 66 Availability: No items available. Save to lists Add to cart (remove)
	5.	Pyruvic aciduria in a patient with organic aciduria. [electronic resource] by LOWE, C U SMITH, R T Producer: 20030501 In: Helvetica paediatrica acta vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	6.	Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. [electronic resource] by Santamaria, Francesca Brancaccio, Gianluca Parenti, Giancarlo Francalanci, Paola Squitieri, Cosimo Sebastio, Gianfranco Dionisi-Vici, Carlo D'argenio, Patrizia Andria, Generoso Parisi, Francesco Producer: 20041026 In: The Journal of pediatrics vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The molecular bases of cystinuria and lysinuric protein intolerance. [electronic resource] by Palacín, M Borsani, G Sebastio, G Producer: 20011101 In: Current opinion in genetics & development vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. [electronic resource] by Ceruti, Michele Rodi, Giuseppe Stella, Giulia M Adami, Andrea Bolongaro, Antonia Baritussio, Aldo Pozzi, Ernesto Luisetti, Maurizio Producer: 20071106 In: Orphanet journal of rare diseases vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [electronic resource] by Bröer, Stefan Bailey, Charles G Kowalczuk, Sonja Ng, Cynthia Vanslambrouck, Jessica M Rodgers, Helen Auray-Blais, Christiane Cavanaugh, Juleen A Bröer, Angelika Rasko, John E J Producer: 20081230 In: The Journal of clinical investigation vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. [electronic resource] by Tanner, Laura Näntö-Salonen, Kirsti Niinikoski, Harri Erkkola, Risto Huoponen, Kirsi Simell, Olli Producer: 20060317 In: Metabolism: clinical and experimental vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. [electronic resource] by Kleefstra, T Rosenberg, E H Salomons, G S Stroink, H van Bokhoven, H Hamel, B C J de Vries, B B A Producer: 20051020 In: Clinical genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Expression of heteromeric amino acid transporters along the murine intestine. [electronic resource] by Dave, Mital H Schulz, Nicole Zecevic, Marija Wagner, Carsten A Verrey, Francois Producer: 20050124 In: The Journal of physiology vol. 558 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Inherited epithelial transporter disorders--an overview. [electronic resource] by Bergeron, M J Simonin, A Bürzle, M Hediger, M A Producer: 20130103 In: Journal of inherited metabolic disease vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts. [electronic resource] by Rosenberg, Efraim H Muñoz, Cristina Martínez Degrauw, Ton J Jakobs, Cor nelis Salomons, Gajja S Producer: 20070109 In: Journal of inherited metabolic disease vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. [electronic resource] by van de Kamp, Jiddeke M Pouwels, Petra J W Aarsen, Femke K ten Hoopen, Leontine W Knol, Dirk L de Klerk, Johannes B de Coo, Ireneus F Huijmans, Jan G M Jakobs, Cornelis van der Knaap, Marjo S Salomons, Gajja S Mancini, Grazia M S Producer: 20120525 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Creatine transporter deficiency in two adult patients with static encephalopathy. [electronic resource] by Sempere, A Fons, C Arias, A Rodríguez-Pombo, P Colomer, R Merinero, B Alcaide, P Capdevila, A Ribes, A Artuch, R Campistol, J Producer: 20130805 In: Journal of inherited metabolic disease vol. 32 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Lysinuric protein intolerance: mechanisms of pathophysiology. [electronic resource] by Palacín, Manuel Bertran, Joan Chillarón, Josep Estévez, Raúl Zorzano, Antonio Producer: 20050216 In: Molecular genetics and metabolism vol. 81 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years. [electronic resource] by Hadj-Taieb, Sameh Nasrallah, Fehmi Hammami, Mohamed B Elasmi, Monia Sanhaji, Haifa Moncef, Feki Kaabachi, Naziha Producer: 20120627 In: La Tunisie medicale vol. 90 Availability: No items available. Save to lists Add to cart (remove)
	19.	Citrin deficiency, a perplexing global disorder. [electronic resource] by Dimmock, David Maranda, Bruno Dionisi-Vici, Carlo Wang, Jing Kleppe, Soledad Fiermonte, Giuseppe Bai, Renkui Hainline, Bryan Hamosh, Ada O'Brien, William E Scaglia, Fernando Wong, Lee-Jun Producer: 20090121 In: Molecular genetics and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. [electronic resource] by Tanner, Laura M Näntö-Salonen, Kirsti Niinikoski, Harri Jahnukainen, Timo Keskinen, Päivi Saha, Heikki Kananen, Kristiina Helanterä, Antero Metso, Martti Linnanvuo, Marjatta Huoponen, Kirsi Simell, Olli Producer: 20070614 In: The Journal of pediatrics vol. 150 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 26 results.