Your search returned 836 results.

Results
	661.	Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? [electronic resource] by Thomsen, Jákup Andreas Lund, Allan Meldgaard Olesen, Jess Have Mohr, Magni Rasmussen, Jan 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)
	662.	Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing. [electronic resource] by Smith-Packard, Bethanny Myers, Scott M Williams, Marc S Producer: 20150701 In: JIMD reports vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	663.	Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. [electronic resource] by Körver-Keularts, I M L W de Visser, M Bakker, H D Wanders, R J A Vansenne, F Scholte, H R Dorland, L Nicolaes, G A F Spaapen, L M J Smeets, H J M Hendrickx, A T M van den Bosch, B J C Producer: 20150701 In: JIMD reports vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	664.	Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes. [electronic resource] by Harzer, Klaus Beck-Wödl, Stefanie Bauer, Peter 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)
	665.	Motor development skills of 1- to 4-year-old Iranian children with early treated phenylketonuria. [electronic resource] by Nazi, Sepideh Rohani, Farzaneh Sajedi, Firoozeh Biglarian, Akbar Setoodeh, Arya 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)
	666.	Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. [electronic resource] by Ho, A C C Fung, C W Siu, T S Ma, O C K Lam, C W Tam, S Wong, V C N 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)
	667.	Liver engraftment and repopulation by in vitro expanded adult derived human liver stem cells in a child with ornithine carbamoyltransferase deficiency. [electronic resource] by Sokal, Etienne M Stéphenne, Xavier Ottolenghi, Chris Jazouli, Nawal Clapuyt, Philippe Lacaille, Florence Najimi, Mustapha de Lonlay, Pascale Smets, Françoise 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)
	668.	Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent. [electronic resource] by Lovell, Kathryn L Zhu, Mei Drummond, Meghan C Switzer, Robert C Friderici, Karen H 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)
	669.	Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance. [electronic resource] by Unal, Ozlem Coşkun, Turgay Orhan, Diclehan Tokatl, Ayşegül Dursun, Ali Hişmi, Burcu Ozyüncü, Ozgür Sivri, Serap Hatice Kalkanoğlu 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)
	670.	Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. [electronic resource] by Distelmaier, Felix Huppke, Peter Pieperhoff, Peter Amunts, Katrin Schaper, Jörg Morava, Eva Mayatepek, Ertan Kohlhase, Jürgen Karenfort, Michael 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)
	671.	A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. [electronic resource] by Dreha-Kulaczewski, S Kalscheuer, V Tzschach, A Hu, H Helms, G Brockmann, K Weddige, A Dechent, P Schlüter, G Krätzner, R Ropers, H-H Gärtner, J Zirn, B 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)
	672.	Newborn Screening for Glutaric Aciduria-II: The New England Experience. [electronic resource] by Sahai, I Garganta, C L Bailey, J James, P Levy, H L Martin, M Neilan, E Phornphutkul, C Sweetser, D A Zytkovicz, T H Eaton, R B 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)
	673.	Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington State. [electronic resource] by Fleischman, Ashleigh Thompson, John D Glass, Mike 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)
	674.	Behavioral responses in rats submitted to chronic administration of branched-chain amino acids. [electronic resource] by Scaini, Giselli Jeremias, Gabriela C Furlanetto, Camila B Dominguini, Diogo Comim, Clarissa M Quevedo, João Schuck, Patrícia F Ferreira, Gustavo C Streck, Emilio L 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)
	675.	Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study. [electronic resource] by Sechi, Annalisa Deroma, Laura Paci, Sabrina Lapolla, Annunziata Carubbi, Francesca Burlina, Alberto Rigoldi, Miriam Di Rocco, Maja 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)
	676.	Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. [electronic resource] by Leduc, Charles A Crouch, Elizabeth E Wilson, Ashley Lefkowitch, Jay Wamelink, Mirjam M C Jakobs, Cornelis Salomons, Gajja S Sun, Xiaoyun Shen, Yufeng Chung, Wendy K 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)
	677.	Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. [electronic resource] by Slavin, T P Zaidi, S J Neal, C Nishikawa, B Seaver, L H 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)
	678.	Propionic acidemia and optic neuropathy: a report of two cases. [electronic resource] by Arias, Carolina Raimann, Erna Peredo, Pilar Cabello, Juan Francisco Castro, Gabriela Valiente, Alf de la Parra, Alicia Bravo, Paulina Okuma, Cecilia Cornejo, Verónica 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)
	679.	Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. [electronic resource] by Sentner, Christiaan P Vos, Yvonne J Niezen-Koning, Klary N Mol, Bart Smit, G Peter A Producer: 20130225 In: JIMD reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	680.	Autism spectrum disorder in a child with propionic acidemia. [electronic resource] by Al-Owain, M Kaya, N Al-Shamrani, H Al-Bakheet, A Qari, A Al-Muaigl, S Ghaziuddin, M Producer: 20130225 In: JIMD reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
Next
Last

Refine your search

Availability

Authors

Languages

Your search returned 836 results.