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101. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

102. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.

103. Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

104. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

105. Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration.

106. Supplemental Material, Supplemental_Material-_Table_2 - Developmental Outcomes of Aicardi Goutières Syndrome

107. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

108. Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

109. Developmental Outcomes of Aicardi Goutières Syndrome

110. Developmental outcomes of Aicardi Goutières Syndrome (P4.6-044)

111. Consensus Guidelines: MRI Surveillance of Children with Presymptomatic Adrenoleukodystrophy (P4.6-047)

114. 3279 First in Man

116. Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature.

117. Nusinersen versus sham control in later-onset spinal muscular atrophy

121. Mutations inSZT2result in early-onset epileptic encephalopathy and leukoencephalopathy

122. Pilot study of the use of Janus Kinase Inhibitor, Baricitinib, in the treatment of heritable interferonopathy Aicardi Goutières Syndrome (P3.323)

124. Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statement

125. Developmental Outcomes of Aicardi Goutières Syndrome.

128. Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy.

131. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.

134. Pulmonological issues.

137. Determination of Health Concepts in β-Propeller Protein–Associated Neurodegeneration.

138. Considerations for the safe operation of schools during the coronavirus pandemic

139. Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.

140. SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.

141. Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

142. Systemic complications of Aicardi Goutières syndrome using real-world data.

143. Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.

144. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).

145. Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.

147. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

148. The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders.

149. Preservation of cognitive skills in Aicardi Goutières syndrome.

150. Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

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