508 results on '"Kasper, David"'
Search Results
102. Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and β-thalassemias in dried blood spots
103. Targeted-population screening for mucopolysaccharidoses: Results of the assessment of >9000 samples
104. Lyso-sphingomyelin as biomarker for Niemann-Pick disease type A and B patients
105. Comparison of tripeptidyl peptidase 1 (CLN2) measurement by fluorometry and tandem mass spectrometry
106. Combined biochemical and targeted-next generation sequencing panel for differential diagnosis of inherited myopathies
107. Differential diagnosis for mucopolysaccharidoses (MPSs)
108. Investigating the suitability of high-resolution mass spectrometry for newborn screening: Identification of hemoglobinopathies and β-thalassemia in dried blood spots
109. Differential diagnosis of Niemann-Pick disease types A and B in cases of suspected Gaucher disease
110. The value of biochemical enzymatic testing for the rapid identification of early-onset Pompe disease in newborns and children
111. Diagnostic strategy for females suspected of Fabry disease
112. Analytical and diagnostic performance of a DBS based assay for GM1 and GM2
113. Challenges for newborn screening and rare disease diagnostic initiatives in Europe
114. Diagnostic strategy for females suspected of Fabry disease
115. Kyphoplasty
116. Atypical Herpes Zoster Infection Preceded by Sciatica and Foot Drop
117. Angiosarcoma Clinically Resembling Morpheaform Basal Cell Carcinoma
118. An unusual skin nodule: Over the past 2 months, the patient lost 20 pounds and noticed "bumps" on her body
119. Lymphedema of the Hand and Forearm Following Fracture of the Distal Radius
120. MAROON-X: the first two years of EPRVs from Gemini North
121. Basaloid Follicular Hamartoma: A Cautionary Tale and Review of the Literature
122. Pigmented Bowenʼs Disease Clinically Mimicking Melanoma of the Nail
123. Ultrasonic attenuation based on the Roney generalized theory and multiple power-law grain-size distributions
124. KELT-23Ab: A Hot Jupiter Transiting a Near-solar Twin Close to the TESS and JWST Continuous Viewing Zones
125. Vaginal Ureaplasma parvum serovars and spontaneous preterm birth
126. Asparagine levels in the cerebrospinal fluid of children with acute lymphoblastic leukemia treated with pegylated-asparaginase in the induction phase of the AIEOP-BFM ALL 2009 study
127. Targeted Metabolomic Profiling of Peritoneal Dialysis Effluents Shows Anti-oxidative Capacity of Alanyl-Glutamine
128. KELT-22Ab: A Massive, Short-Period Hot Jupiter Transiting a Near-solar Twin
129. A transmission spectrum of HD 189733b from multiple broad-band filter observations
130. Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders
131. Low prevalence estimates of late-onset glycogen storage disease type II in French-speaking Belgium are not due to missed diagnoses
132. The KELT Follow-up Network and Transit False-positive Catalog: Pre-vetted False Positives for TESS
133. Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses
134. Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy
135. Validation of a novel MS/MS-based dried blood assay for the assessment of arylsulfatase B and N-acetylgalactosamin-6-sulfatase activities
136. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease
137. Importance of lyso-GL-3 (lyso-Gb3) for primary diagnostics of Fabry disease: two-year experience in a daily routine laboratory
138. Multiplexed testing for Gaucher disease, Niemann Pick disease types A and B and lysosomal acid lipase deficiency
139. Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine (Lyso-Gb3) and time to initiation of enzyme replacement therapy, an observational study
140. KELT-21b: A Hot Jupiter Transiting the Rapidly Rotating Metal-poor Late-A Primary of a Likely Hierarchical Triple System
141. Five year experience of diagnostic testing for lysosomal diseases in Germany, Austria and Switzerland
142. Empfehlungen für medizinische Massnahmen bei immigrierenden Kindern und Jugendlichen
143. Quantitative PCR method for sensitive detection of ruminant fecal pollution in freshwater and evaluation of this method in alpine karstic regions
144. Diagnostic accuracy of the ROCHE Septifast PCR system for the rapid detection of blood pathogens in neonatal sepsis—A prospective clinical trial
145. First Trimester Vaginal Ureaplasma Biovar Colonization and Preterm Birth: Results of a Prospective Multicenter Study
146. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease
147. Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving
148. A giant planet undergoing extreme-ultraviolet irradiation by its hot massive-star host
149. Metabolic progression to clinical phenotype in classic Fabry disease
150. Plasma lyso-Gb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes
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