497 results on '"Ficicioglu, Can"'
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102. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry
103. Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database.
104. Additional file 1: of Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
105. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
106. Early Signs of Creatine Transporter Deficiency
107. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
108. [13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
109. CAMPSIITE™ Phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II).
110. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
111. Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency
112. Response to Neeleman et al.
113. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry
114. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
115. Early Indicators of Creatine Transporter Deficiency
116. CHAMPIONS: A phase 1/2 clinical trial with dose escalation of SB-913 ZFN-mediated in vivo human genome editing for treatment of MPS II (Hunter syndrome)
117. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
118. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
119. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders
120. Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
121. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
122. Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia
123. Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
124. Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
125. Failure to Thrive: An Expanded Differential Diagnosis
126. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
127. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
128. Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statement
129. Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing
130. The diagnosis and natural history of mucopolysaccharidosis type IVA in one family
131. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
132. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
133. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
134. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years
135. ALG1-CDG:Clinical and Molecular Characterization of 39 Unreported Patients
136. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
137. Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
138. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
139. Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
140. New tools and approaches to newborn screening: ready to open Pandora's box?
141. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
142. Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening
143. The Pennsylvania newborn screening experience for Pompe disease
144. Intrafamilial variability in the clinical presentation of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
145. Urinary glycosaminoglycan levels in a mucopolysaccharidosis type II pediatric population receiving idursulfase therapy: datafrom the Hunter Outcome Survey (HOS) for patients aged <18 months
146. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency
147. Mudd's disease (MAT I/III deficiency) : a survey of data for MAT1A homozygotes and compound heterozygotes
148. Cobalamin C Disease Missed By Newborn Screening In A Patient With Low Carnitine Level
149. Results of a Global Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Sebelipase Alfa as an Enzyme Replacement Therapy in Children and Adults with Lysosomal Acid Lipase Deficiency
150. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
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