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	521.	Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunter. [electronic resource] by Westhoff, M Litterst, P 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)
	522.	Hyperargininemia: a family with a novel mutation in an unexpected site. [electronic resource] by Cohen, Y Haimi Bargal, R Zeigler, M Markus-Eidlitz, T Zuri, V Zeharia, A 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)
	523.	A rare galactosemia complication: vitreous hemorrhage. [electronic resource] by Takci, Sahin Kadayifcilar, Sibel Coskun, Turgay Yigit, Sule Hismi, Burcu 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)
	524.	Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis. [electronic resource] by Nakagawa, Sachiko Zhan, Jie Sun, Wei Ferreira, Jose Carlos Keiles, Steven Hambuch, Tina Kammesheidt, Anja Mark, Brian L Schneider, Adele Gross, Susan Schreiber-Agus, Nicole 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)
	525.	A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency. [electronic resource] by Fontaine, Monique Dessein, Anne-Frédérique Douillard, Claire Dobbelaere, Dries Brivet, Michèle Boutron, Audrey Zater, Mokhtar Mention-Mulliez, Karine Martin-Ponthieu, Annie Vianey-Saban, Christine Briand, Gilbert Porchet, Nicole Vamecq, Joseph 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)
	526.	Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome. [electronic resource] by Schwoerer, Jessica A Scott Obernolte, Lisa Van Calcar, Sandra Heighway, Susan Bankowski, Heather Williams, Phillip Rice, Gregory 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)
	527.	Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. [electronic resource] by Laróvere, Laura E Ruiz, Silene M Silvera Angaroni, Celia J de Kremer, Raquel Dodelson 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)
	528.	A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. [electronic resource] by Broomfield, A Gunny, R Ali, I Vellodi, A Prabhakar, P 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)
	529.	Fatty Acid oxidation disorders in a chinese population in taiwan. [electronic resource] by Chien, Yin-Hsiu Lee, Ni-Chung Chao, Mei-Chyn Chen, Li-Chu Chen, Li-Hsin Chien, Chun-Ching Ho, Hui-Chen Suen, Jeng-Hung Hwu, Wuh-Liang 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)
	530.	Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. [electronic resource] by Miller, Natalie B Beigelman, Avraham Utterson, Elizabeth Shinawi, Marwan 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)
	531.	Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. [electronic resource] by Sheth, Jayesh Mistri, Mehul Sheth, Frenny Shah, Raju Bavdekar, Ashish Godbole, Koumudi Nanavaty, Nidhish Datar, Chaitanya Kamate, Mahesh Oza, Nrupesh Ankleshwaria, Chitra Mehta, Sanjeev Jackson, Marie 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)
	532.	Pulmonary manifestations in a patient with transaldolase deficiency. [electronic resource] by Jassim, Nada Alghaihab, Mohammed Saleh, Suhail Al Alfadhel, Majid Wamelink, Mirjam M C Eyaid, Wafaa 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)
	533.	A Japanese adult case of guanidinoacetate methyltransferase deficiency. [electronic resource] by Akiyama, Tomoyuki Osaka, Hitoshi Shimbo, Hiroko Nakajiri, Tomoshi Kobayashi, Katsuhiro Oka, Makio Endoh, Fumika Yoshinaga, Harumi 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)
	534.	Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation. [electronic resource] by Hannah-Shmouni, Fady Sirrs, Sandra Mezei, Michelle M Waters, Paula J Mattman, Andre 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)
	535.	Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation. [electronic resource] by Bayat, Allan Christensen, Mette Wibrand, Flemming Duno, Morten Lund, Allan Producer: 20150317 In: JIMD reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	536.	Psychological health in adults with morquio syndrome. [electronic resource] by Ali, Nadia Cagle, S Producer: 20150327 In: JIMD reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	537.	Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease. [electronic resource] by Flanagan, Theresa B Sutton, Jill A Brown, Laurie M Weinstein, David A Merlo, Lisa J 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)
	538.	A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. [electronic resource] by Tran, Thanh-Thanh Claire V Liu, Ying Zwick, Michael E Ramachandran, Dhanya Cutler, David J Huang, Xiaoping Berry, Gerard T Fridovich-Keil, Judith L 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)
	539.	Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. [electronic resource] by Lynch, Mary Ellen Potter, Nancy L Coles, Claire D Fridovich-Keil, Judith L 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)
	540.	Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. [electronic resource] by Usher, Jeannette L Ascher, David B Pires, Douglas E V Milan, Anna M Blundell, Tom L Ranganath, Lakshminarayan R 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)

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Your search returned 836 results.