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	1.	Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes. [electronic resource] by Patel, Jaina Mercimek-Mahmutoglu, Saadet Producer: 20180409 In: Indian journal of pediatrics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. [electronic resource] by Mercimek-Mahmutoglu, Saadet Stockler-Ipsiroglu, Sylvia Producer: 20070226 In: The Tohoku journal of experimental medicine vol. 211 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. [electronic resource] by Mercimek-Mahmutoglu, Saadet Tucker, Tracy Casey, Brett Producer: 20120228 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. [electronic resource] by Hewson, Stacy Puka, Klajdi Mercimek-Mahmutoglu, Saadet Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes? [electronic resource] by Mercimek-Mahmutoglu, Saadet Al-Thihli, Khalid Roland, Elke Producer: 20120918 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate. [electronic resource] by Mercimek-Mahmutoglu, Saadet Salomons, Gajja S Chan, Alicia Producer: 20150202 In: Pediatric neurology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. [electronic resource] by Mercimek-Mahmutoglu, Saadet Donner, Elizabeth J Siriwardena, Komudi Producer: 20140317 In: Molecular genetics and metabolism vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections. [electronic resource] by Ting, Joseph Hochwald, Ori Au, Nicholas Mercimek-Mahmutoglu, Saadet Producer: 20120315 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. [electronic resource] by Tran, Christel Hewson, Stacy Steinberg, Steven J Mercimek-Mahmutoglu, Saadet Producer: 20151021 In: Pediatric neurology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. [electronic resource] by Albanyan, Saleh Al Teneiji, Amal Monfared, Nasim Mercimek-Mahmutoglu, Saadet Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Biochemical and clinical characteristics of creatine deficiency syndromes. [electronic resource] by Sykut-Cegielska, Jolanta Gradowska, Wanda Mercimek-Mahmutoglu, Saadet Stöckler-Ipsiroglu, Sylvia Producer: 20050817 In: Acta biochimica Polonica vol. 51 Availability: No items available. Save to lists Add to cart (remove)
	12.	Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. [electronic resource] by Jain-Ghai, Shailly Mishra, Navin Hahn, Cecil Blaser, Susan Mercimek-Mahmutoglu, Saadet Producer: 20140602 In: Pediatrics vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome. [electronic resource] by Nasr, Enas Mamak, Eva Feigenbaum, Anette Donner, Elizabeth J Mercimek-Mahmutoglu, Saadet Producer: 20151229 In: Journal of child neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. [electronic resource] by Costain, Gregory Shugar, Andrea Krishnan, Pradeep Mahmutoglu, Saadet Laughlin, Suzanne Kannu, Peter Producer: 20171019 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. [electronic resource] by Al Teneiji, Amal Siriwardena, Komudi George, Kristen Mital, Seema Mercimek-Mahmutoglu, Saadet Producer: 20171218 In: Pediatric neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency. [electronic resource] by Munoz, Tatiana Patel, Jinesh Badilla-Porras, Ramses Kronick, Jonathan Mercimek-Mahmutoglu, Saadet Producer: 20150804 In: Brain & development vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. [electronic resource] by Mercimek-Mahmutoglu, Saadet Reilly, Christopher Human, Derek Waters, Paula J Stoeckler-Ipsiroglu, Sylvia Producer: 20100323 In: World journal of pediatrics : WJP vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. [electronic resource] by DesRoches, Caro-Lyne Bruun, Theodora Wang, Peixiang Marshall, Christian R Mercimek-Mahmutoglu, Saadet Producer: 20171215 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition? [electronic resource] by Rupps, Rosemarie Hukin, Juliette Balicki, Martha Mercimek-Mahmutoglu, Saadet Rolfs, Arndt Dias, Cristina Publication details: Journal of child neurology Nov 2013 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)
	20.	Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene. [electronic resource] by Tran, Christel Konstantopoulou, Vassiliky Mecjia, Michelle Perlman, Kusiel Mercimek-Mahmutoglu, Saadet Kronick, Jonathan B Producer: 20160414 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 28 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 58 results.