about
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 geneLoss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyArginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMPhenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletionWhole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicinePyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.Treatment of intractable epilepsy in a female with SLC6A8 deficiency.Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Neurological and brain MRS findings in patients with Gaucher disease type 1.Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome.Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.Fright is a provoking factor in vanishing white matter disease.Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.
P50
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P50
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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Saadet Mercimek-Mahmutoglu
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P1006
P214
P1006
P214
P31
P7859
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