Pages that link to "Q62568284"
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The following pages link to Saadet Mercimek-Mahmutoglu (Q62568284):
Displaying 50 items.
- Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene (Q24336500) (← links)
- Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy (Q28115010) (← links)
- Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM (Q28118934) (← links)
- Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion (Q28245497) (← links)
- Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine (Q33736038) (← links)
- Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up (Q34195320) (← links)
- Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials (Q34302609) (← links)
- Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy (Q34921371) (← links)
- Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study (Q35125526) (← links)
- Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature (Q38258213) (← links)
- Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes (Q38715101) (← links)
- Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force (Q38808532) (← links)
- The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada (Q39121334) (← links)
- A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease (Q39405451) (← links)
- Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene (Q40908945) (← links)
- Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect (Q42282827) (← links)
- Treatment of intractable epilepsy in a female with SLC6A8 deficiency (Q42905509) (← links)
- Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring (Q43793505) (← links)
- Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations (Q44599153) (← links)
- Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry (Q46136091) (← links)
- Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome (Q46699814) (← links)
- Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. (Q47122483) (← links)
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies (Q47581915) (← links)
- Neurological and brain MRS findings in patients with Gaucher disease type 1. (Q48140722) (← links)
- Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome (Q48319646) (← links)
- Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy (Q48418512) (← links)
- Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic! (Q48517770) (← links)
- Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force (Q48526369) (← links)
- Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes? (Q48536254) (← links)
- Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy (Q48627758) (← links)
- Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency (Q48825719) (← links)
- Fright is a provoking factor in vanishing white matter disease (Q48957310) (← links)
- Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler (Q50441368) (← links)
- Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome (Q50498157) (← links)
- Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria (Q50532712) (← links)
- Diagnostic yield of genetic testing in epileptic encephalopathy in childhood (Q50594407) (← links)
- Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet (Q50641161) (← links)
- Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate (Q50667890) (← links)
- Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency (Q50670859) (← links)
- Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study (Q50854752) (← links)
- Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene (Q51043409) (← links)
- Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. (Q51168929) (← links)
- Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene (Q51886474) (← links)
- Long-term follow-up of patients with congenital hyperinsulinism in Austria (Q51887240) (← links)
- BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy (Q52101397) (← links)
- MED23-associated refractory epilepsy successfully treated with the ketogenic diet. (Q52130938) (← links)
- Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. (Q52421588) (← links)
- Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. (Q52583740) (← links)
- Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. (Q55057595) (← links)
- (Q88287110) (redirect page) (← links)