94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100 [books.google.com]

United Cerebral Palsy (UCP) 1825 K Street NW Suite 600 Washington, DC 20006 Phone: 800.872.5827 E-mail [email protected] Website What are the Congenital Disorders of Glycosylation? 11.07.2013 [day2dayparenting.com]

Keywords Glycosylation Neuromuscular blocking agents Muscle hypotonia Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions. [jaclinicalreports.springeropen.com]

Keywords Glycosylation Neuromuscular blocking agents Muscle hypotonia Abbreviations CDG Congenital disorders of glycosylation NMBAs Neuromuscular blocking agents PMM2 Phosphomannomutase-2 Background Glycosylation is one of the major posttranslational [link.springer.com]

Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric [books.google.com]

The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. [scinapse.io]

The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. [ojrd.biomedcentral.com]

The classic clinical presentation is protein-losing enteropathy, congenital hepatic fibrosis, and coagulopathy without overt neurologic manifestations (14 – 18). Other presentations are persistent vomiting (15) and hypoglycemia (18). [nature.com]

Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.com]