1,051 results on '"de Lonlay, Pascale"'
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152. Grossesse et maladies métaboliques
153. Déficits du cycle de l’urée
154. Classification des maladies héréditaires du métabolisme
155. Convulsions néonatales et mouvements anormaux
156. Déficits énergétiques (déficits de la chaîne respiratoire, PDH, PC, cycle de Krebs)
157. Déficits de l’oxydation des acides gras
158. Maladie de Wilson, maladie de Menkes et acéruléoplasminémie
159. Leucinose
160. Homocystinurie, métabolisme des folates et de la B12
161. Fructosémie et déficits de la néoglucogenèse
162. Respiratory chain deficiency presenting as congenital nephrotic syndrome
163. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
164. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
165. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
166. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome
167. Hyperinsulinism Due to Mutations of Uncoupling Protein 2
168. Molecular Mechanisms and Clinical Pathophysiologies of Focal ATP-Sensitive Potassium Channel Hyperinsulinism and Beckwith-Wiedemann Syndrome
169. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
170. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
171. Confirmation of a Congenital Syndrome of Severe Hypoglycemia and Overgrowth with Undetectable Plasma Insulin
172. Hyperinsulinism, Neonatal Hypoglycemia, New Mechanisms
173. Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia
174. Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy
175. Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.
176. Focal katp hyperinsulinism: Synopsis #7
177. Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations
178. Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism
179. Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4
180. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
181. Post-mortem MRI reveals CPT2 deficiency after sudden infant death
182. Clinical and biochemical heterogeneity associated with fumarase deficiency
183. Reply
184. In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy
185. Familial Focal Congenital Hyperinsulinism
186. La consultation de médiation transculturelle dans un hôpital pédiatrique en France
187. Rhabdomyolyse et acidose lactique sévères secondaires à une mutation FDXL1
188. Long term outcome of MPI‐CDG patients on D‐mannose therapy
189. Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
190. Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
191. Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2
192. Intrafamilial Variability in LPIN1-Related Rhabdomyolysis
193. Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error
194. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
195. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
196. Transcultural mediation programme in a paediatric hospital in France: qualitative and quantitative study of participants’ experience and impact on hospital costs
197. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
198. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
199. Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation
200. Structural Insights on Pathogenic Effects of Novel Mutations Causing Pyruvate Carboxylase Deficiency
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