Your search returned 836 results.

Results
	561.	IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. [electronic resource] by Stockmann, Henning Coss, Karen P Rubio-Gozalbo, M Estela Knerr, Ina Fitzgibbon, Maria Maratha, Ashwini Wilson, James Rudd, Pauline Treacy, Eileen P 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)
	562.	No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. [electronic resource] by Piekutowska-Abramczuk, Dorota Kocyła-Karczmarewicz, Beata Małkowska, Maja Łuczak, Sylwia Iwanicka-Pronicka, Katarzyna Siegmund, Stephanie Yang, Hua Wen, Quan Hoang, Quan V Silverman, Ronald H Kowalski, Paweł Szczypińska, Olga Czornak, Kamila Zimowski, Janusz Płoski, Rafał Pilch, Jacek Ciara, Elżbieta Zaremba, Jacek Krajewska-Walasek, Małgorzata Schon, Eric A Pronicka, Ewa 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)
	563.	Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy. [electronic resource] by Krämer, Johannes Nordbeck, Peter Störk, Stefan Ritter, Christian Ertl, Georg Wanner, Christoph Weidemann, Frank Publication details: JIMD reports Oct 2015 In: JIMD reports p. None Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	564.	Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease. [electronic resource] by Baruteau, J Broomfield, A Crook, V Finnegan, N Harvey, K Burke, D Burch, M Shepherd, G Vellodi, A 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)
	565.	Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy. [electronic resource] by van Karnebeek, Clara Horvath, Gabriella Murphy, Tyler Purtzki, Jacqueline Bowden, Kristin Sirrs, Sandra Honey, Christopher R Stockler, Sylvia Producer: 20141219 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	566.	Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment. [electronic resource] by van Dongen, Sanne Brown, Ruth M Brown, Garry K Thorburn, David R Boneh, Avihu Producer: 20141219 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	567.	Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. [electronic resource] by van Karnebeek, Clara D M Stockler-Ipsiroglu, Sylvia Jaggumantri, Sravan Assmann, Birgit Baxter, Peter Buhas, Daniela Bok, Levinus A Cheng, Barbara Coughlin, Curtis R Das, Anibh M Giezen, Alette Al-Hertani, Wahla Ho, Gloria Meyer, Uta Mills, Philippa Plecko, Barbara Struys, Eduard Ueda, Keiko Albersen, Monique Verhoeven, Nanda Gospe, Sidney M Gallagher, Renata C Van Hove, Johan K L Hartmann, Hans Producer: 20141114 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	568.	Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. [electronic resource] by Wortmann, Saskia B Kluijtmans, Leo A J Sequeira, Silvia Wevers, Ron A Morava, Eva Producer: 20141106 In: JIMD reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	569.	Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis I. [electronic resource] by Harada, Haruhito Niiyama, Hiroshi Katoh, Atsushi Ikeda, Hisao Producer: 20141106 In: JIMD reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	570.	Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. [electronic resource] by Barrett, M J Shanker, V L Severt, W L Raymond, D Gross, S J Schreiber-Agus, N Kornreich, R Ozelius, L J Bressman, S B Saunders-Pullman, R Producer: 20141106 In: JIMD reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	571.	Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. [electronic resource] by Falk, Marni J Li, Dong Gai, Xiaowu McCormick, Elizabeth Place, Emily Lasorsa, Francesco M Otieno, Frederick G Hou, Cuiping Kim, Cecilia E Abdel-Magid, Nada Vazquez, Lyam Mentch, Frank D Chiavacci, Rosetta Liang, Jinlong Liu, Xuanzhu Jiang, Hui Giannuzzi, Giulia Marsh, Eric D Guo, Yiran Tian, Lifeng Palmieri, Ferdinando Hakonarson, Hakon 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)
	572.	NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates. [electronic resource] by Aygen, Sitke Dürr, Ulrich Hegele, Peter Kunig, Johannes Spraul, Manfred Schäfer, Hartmut Krings, David Cannet, Claire Fang, Fang Schütz, Birk Bülbül, Selda F H Aydin, H Ibrahim Sarıcı, S Umit Yalaz, Mehmet Ors, Rahmi Atalan, Resit Tuncer, Oğuz Producer: 20141106 In: JIMD reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	573.	Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes. [electronic resource] by Farwell Gonzalez, Kelly D Li, Xiang Lu, Hsiao-Mei Lu, Hong Pellegrino, Joan E Miller, Ryan T Zeng, Wenqi Chao, Elizabeth C Producer: 20141219 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	574.	Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease. [electronic resource] by McNamara, Erin R Sullivan, Jennifer Nagaraj, Shashi K Wiener, John S Kishnani, Priya S Producer: 20141219 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	575.	Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome). [electronic resource] by Möllmann, Christian Lampe, Christian G Müller-Forell, Wibke Scarpa, Maurizio Harmatz, Paul Schwarz, Manfred Beck, Michael Lampe, Christina 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)
	576.	Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis. [electronic resource] by Davit-Spraul, Anne Beinat, Marine Debray, Dominique Rötig, Agnes Slama, Abdelhamid Jacquemin, Emmanuel 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)
	577.	Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells. [electronic resource] by Kamei, Makoto Kasperski, Karissa Fuller, Maria Parkinson-Lawrence, Emma J Karageorgos, Litsa Belakhov, Valery Baasov, Timor Hopwood, John J Brooks, Doug A Producer: 20140725 In: JIMD reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	578.	Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. [electronic resource] by Mendelsohn, Bryce A Mehta, Neil Hameed, Bilal Pekmezci, Melike Packman, Seymour Ralph, Jeffrey Producer: 20140725 In: JIMD reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	579.	Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate. [electronic resource] by Choi, Yoo Tuzikov, Alexander B Ovchinnikova, Tatyana V Bovin, Nicolai V Pshezhetsky, Alexey V Publication details: JIMD reports Oct 2015 In: JIMD reports p. None Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	580.	Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. [electronic resource] by Taylor, Adam M Vercruysse, Koen P 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)

First
Previous
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
Next
Last

Refine your search

Availability

Authors

Languages

Your search returned 836 results.