Saadet Mercimek-Mahmutoglu - The Hospital for Sick Children, University of Toronto

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论文共 24 篇作者统计合作学者相似作者

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Reply Letter to Jinnah “locus Pocus” and Albanese “complex Dystonia is Not a Category in the New 2013 Consensus Classification”: Necessary Evolution, No Magic

C. Klein, A. Lang, B. V. D. van de Warrenburg,C. Sue, S. Tabrizi, L. Bertram,S. Mercimek-Mahmutoglu,D. Ebrahimi‐Fakhari, T. Warner, A. Durr,B. Assmann, V. Kostic, K. Lohmann, C. Marras

Movement Disorders (2016)

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A Pilot Study to Estimate Incidence of Guanidinoacetate Methyltransferase Deficiency in Newborns by Direct Sequencing of the GAMT Gene

S. Mercimek-Mahmutoglu, A. Pop,W. Kanhai, M. Fernandez Ojeda, U. Holwerda,D. Smith,J. G. Loeber,P. C. J. I. Schielen,G. S. Salomons

Gene（2015）

引用20浏览0WOS引用

RETROSPECTIVE REVIEW OF CEREBROSPINAL FLUID CATECHOLAMINE AND SEROTONIN METABOLITES FOR INDICATIONS AND DIAGNOSIS OF NEUROTRANSMITTER DISORDERS

S. Mercimek-Mahmutoglu, S. Sidky, J. Patel,L. Kyriakopoulou,K. Hyland

MOLECULAR GENETICS AND METABOLISMno. 3 (2014): 279-280

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Phenotype and Genotype in 101 Males with X-Linked Creatine Transporter Deficiency

JOURNAL OF MEDICAL GENETICS（2013）

引用150浏览0WOS引用

150

Etiology of carpal tunnel syndrome in children and adolescents in British Columbia

S. Mercimek-Mahmutoglu,C. Verchere, P. Wong

MOLECULAR GENETICS AND METABOLISM（2012）

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Guanidinoacetate Methyltransferase Deficiency: First Steps to Newborn Screening for a Treatable Neurometabolic Disease

S. Mercimek-Mahmutoglu,G. Sinclair,S. J. M. van Dooren,W. Kanhai,P. Ashcraft,O. J. Michel,J. Nelson,O. T. Betsalel,L. Sweetman,C. Jakobs,G. S. Salomons

Molecular Genetics and Metabolism（2012）

引用29浏览0WOS引用

Antiquitin deficiency: Atypical neonatal presentation with severe hypoglycemia, hyperlacticacidemia, myoclonic epilepsy and hypoxic ischemic encephalopathy

S. Mercimek-Mahmutoglu,G. A. Horvath,M. Coulter-Mackie,M. Connolly,P. J. Waters,T. Nelson,C. Jakobs,S. Stockler-Ipsiroglu

MOLECULAR GENETICS AND METABOLISM（2011）

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Genotype–phenotype Correlation in Vanishing White Matter Disease

H. D. W. van der Lei,C. G. M. van Berkel,W. N. van Wieringen,C. Brenner,A. Feigenbaum,S. Mercimek-Mahmutoglu,M. Philippart,B. Tatli,E. Wassmer,G. C. Scheper,M. S. van der Knaap

Neurology（2010）

引用71浏览0WOS引用

JUVENILE NEURONAL CEROID LIPOFUSCINOSIS IN A PATIENT WITH COMPOUND HETEROZYGOUS CLN3 MUTATIONS: A 9-YEAR FOLLOW-UP

K. Al-Thihli, C. Matsuba,E. Roland,S. Stockler-Ipsiroglu,S. Mercimek-Mahmutoglu

JOURNAL OF INHERITED METABOLIC DISEASE（2010）

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TREATMENT OF INTRACTABLE EPILEPSY IN A FEMALE WITH X-LINKED CEREBRAL CREATINE TRANSPORTER (SLC6A8) DEFICIENCY

S. Mercimek-Mahmutoglu,M. Connolly,K. Poskitt,N. Lowry,G. S. Salomons,B. Casey,G. Sinclair,C. Jakobs,S. Stockler-Ipsiroglu

JOURNAL OF INHERITED METABOLIC DISEASE（2010）

引用2浏览0引用

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