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	401.	Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? [electronic resource] by Sarkissian, Christineh N Gamez, Alejandra Scott, Patrick Dauvillier, Jerome Dorenbaum, Alejandro Scriver, Charles R Stevens, Raymond C 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)
	402.	Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease. [electronic resource] by Elias, Abdallah F Johnson, Maria Ronningen Boitnott, John K Valle, David 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)
	403.	Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. [electronic resource] by Ferri, Lorenzo Caciotti, Anna Cavicchi, Catia Rigoldi, Miriam Parini, Rossella Caserta, Marina Chibbaro, Guido Gasperini, Serena Procopio, Elena Donati, Maria Alice Guerrini, Renzo Morrone, Amelia 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)
	404.	Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect. [electronic resource] by Zweers, H Timmer, C Rasmussen, E den Heijer, M de Valk, H 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)
	405.	Chronic kidney disease in an adult with propionic acidemia. [electronic resource] by Vernon, H J Bagnasco, S Hamosh, A Sperati, C J Producer: 20140122 In: JIMD reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	406.	A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities. [electronic resource] by Papachristoforou, Rena Petrou, Petros P Sawyer, Hilary Williams, Maggie Drousiotou, Anthi Producer: 20140122 In: JIMD reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	407.	No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3. [electronic resource] by Bizec, C Le Nicole, S Panagiotakaki, E Seta, N Vuillaumier-Barrot, S Producer: 20140122 In: JIMD reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	408.	Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene. [electronic resource] by Zanetti, Alessandra Onenli-Mungan, Neslihan Elcioglu, Nursel Ozbek, Mehmet Nuri Kör, Deniz Lenzini, Elisabetta Scarpa, Maurizio Tomanin, Rosella Producer: 20141030 In: JIMD reports vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	409.	Fructose-1,6-bisphosphatase deficiency: a case of a successful pregnancy by closely monitoring metabolic control. [electronic resource] by Sugita, Genki Tsuyoshi, Hideaki Nishijima, Koji Yoshida, Yoshio Producer: 20141030 In: JIMD reports vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	410.	Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD). [electronic resource] by Jeyaratnam, Jerold Ter Haar, Nienke M de Sain-van der Velden, Monique G M Waterham, Hans R van Gijn, Mariëlle E Frenkel, Joost Producer: 20160512 In: JIMD reports vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	411.	Friedreich Ataxia in Classical Galactosaemia. [electronic resource] by Neville, Siobhán O'Sullivan, Siobhan Sweeney, Bronagh Lynch, Bryan Hanrahan, Donncha Knerr, Ina Lynch, Sally Ann Crushell, Ellen Producer: 20160512 In: JIMD reports vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	412.	Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? [electronic resource] by Grover, Z Lewindon, P Clousten, A Shaag, A Elpeleg, O Coman, D Producer: 20150618 In: JIMD reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	413.	Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. [electronic resource] by Gertsman, Ilya Barshop, Bruce A Panyard-Davis, Jan Gangoiti, Jon A Nyhan, William L Producer: 20150925 In: JIMD reports vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	414.	Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. [electronic resource] by Tada, Hayato Kawashiri, Masa-Aki Takata, Mutsuko Matsunami, Kunihiro Imamura, Atsushi Matsuyama, Misayo Sawada, Hirotake Nunoi, Hiroyuki Konno, Tetsuo Hayashi, Kenshi Nohara, Atsushi Inazu, Akihiro Kobayashi, Junji Mabuchi, Hiroshi Yamagishi, Masakazu Producer: 20150618 In: JIMD reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	415.	Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. [electronic resource] by Angileri, Francesca Bergeron, Anne Morrow, Geneviève Lettre, Francine Gray, George Hutchin, Tim Ball, Sarah Tanguay, Robert M Producer: 20150714 In: JIMD reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	416.	Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia. [electronic resource] by Brecht, Marcus Richardson, Malcolm Taranath, Ajay Grist, Scott Thorburn, David Bratkovic, Drago Producer: 20150714 In: JIMD reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	417.	What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? [electronic resource] by van Dam, Esther Daly, Anne Venema-Liefaard, Gineke van Rijn, Margreet Derks, Terry G J McKiernan, Patrick J Rebecca Heiner-Fokkema, M MacDonald, Anita van Spronsen, Francjan J 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)
	418.	Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. [electronic resource] by Hasegawa, Kosei Tanaka, Hiroyuki Yamashita, Miho Higuchi, Yousuke Miyai, Takayuki Yoshimoto, Junko Okada, Ayumi Suzuki, Norihiro Iwatsuki, Keiji Tsukahara, Hirokazu 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)
	419.	Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. [electronic resource] by Martín-Begué, Nieves Alarcón, Silvia Wolley-Dod, Charlotte Lara, Luis Enrique Madrid, Álvaro Cano, Paola Del Toro, Mireia Ariceta, Gema 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)
	420.	Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. [electronic resource] by Veyrat-Durebex, Charlotte Debeissat, Christelle Blasco, Hélène Patin, Franck Henique, Hélène Emond, Patrick Antar, Catherine Gissot, Valérie Herault, Olivier Maillot, François 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)

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Your search returned 836 results.