1,333 results on '"Wevers, Ron"'
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152. Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
153. Two Greek siblings with sepiapterin reductase deficiency
154. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
155. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
156. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
157. Arts syndrome is caused by loss-of-function mutations in PRPS1
158. Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
159. A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics (Metabolomics
160. The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP
161. Genotype-specific Differences in the Expression of Markers of Warburg Effect in Pheochromocytoma and Paraganglioma
162. Nuclear Magnetic Resonance Analysis and Genetic Metabolic Disease
163. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
164. Metabolite Identification Using Infrared Ion Spectroscopy – Novel Biomarkers for Pyridoxine-Dependent Epilepsy
165. Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications
166. Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review
167. Phenotypic Variability in a Dystonia Family With Mutations in the Manganese Transporter Gene
168. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
169. The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained
170. Protein Glysosylation and Congenital Disorders of Glycosylation
171. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria
172. Folinic Acid–Responsive Seizures Initially Responsive to Pyridoxine
173. Lysosomal storage diseases in non-immune hydrops fetalis pregnancies
174. Gas chromatographic–mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency
175. Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
176. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
177. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
178. DPM2-CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy
179. Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability
180. Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due toPYCR1mutations
181. Autosomal Recessive Mental Retardation, Deafness, Ankylosis, and Mild Hypophosphatemia Associated with a Novel ANKH Mutation in a Consanguineous Family
182. Monoamine oxidase A activity in fibroblasts as a functional confirmation ofMAOAvariants
183. Variable Selection in Untargeted Metabolomics and the Danger of Sparsity
184. Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency
185. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
186. Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome
187. The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP
188. Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
189. Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles
190. A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
191. metPropagate: network-guided propagation of metabolomic information for prioritization of neurometabolic disease genes
192. NMR Spectroscopy of Body Fluids as a Metabolomics Approach to Inborn Errors of Metabolism
193. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
194. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking
195. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
196. Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations
197. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
198. Expression of sialidase and dystroglycan in human glomerular diseases
199. Protein Complexes in the Archaeon Methanothermobacter thermautotrophicus Analyzed by Blue Native/SDS-PAGE and Mass Spectrometry
200. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
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