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AJIC: American Journal of Infection Control, ISSN 0196-6553, 2014, Volume 42, Issue 9, pp. 942 - 956
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 03/2019, Volume 29, Issue 3, pp. 192 - 197
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac... 
Pompe disease | Genetic variants | Skeletal alterations | Juvenile-onset | Developmental disability | ALPHA | NATURAL COURSE | INFANTILE | ACID MALTASE DEFICIENCY | NEUROSCIENCES | CLINICAL NEUROLOGY | Amylases | Epilepsy | Genetic aspects
Journal Article
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2014, Volume 12, Issue 4, pp. 207 - 211
  The clinical significance of occipital intermittent rhythmic delta activity (OIRDA) on the electroencephalogram (EEG) has not been fully established. Over... 
epilepsy | absences | delta activity | Occipital rhythmic | electroencephalogram | Attention deficit disorder | Studies | Nuclear magnetic resonance--NMR | Acids | Epilepsy | Nervous system | Rhythm | Electroencephalography | Metabolism
Journal Article
BRAIN SCIENCES, ISSN 2076-3425, 06/2019, Volume 9, Issue 6, p. 137
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter... 
rare disease | TRANSPORTER | PHENOTYPE | NEUROSCIENCES | autism | CHILDREN | BIOSYNTHESIS | muscle | FUNCTIONAL-ANALYSIS | carnitine | MUTATIONS | OCTN2 | intellectual disability
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2005, Volume 3, Issue 4, pp. 199 - 205
  We reviewed the etiologic aspects, clinical symptoms, complementary studies, differential diagnosis and treatment of alternating hemiplegia of childhood... 
Dystonia | Convulsions | Flunarizine | EEG | Epilepsy | Alternating hemiplegia | Pediatrics | Convulsions & seizures | Medical treatment | Nervous system | Paralysis | Medical diagnosis | Children & youth
Journal Article
Neurology, Psychiatry and Brain Research, ISSN 0941-9500, 02/2018, Volume 27, pp. 1 - 5
Febrile seizures (FS) are the result of particular sensitivity to fever in the developing brain, have a major genetic predisposition, and nearly always have a... 
Febrile seizure | Myoclonic convulsion | Febrile seizures plus | Epilepsy | Syndrome genetic
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 06/2007, Volume 5, Issue 2, pp. 093 - 099
Abstract We reviewed the etiology, clinical symptoms, differential diagnosis, treatment and prognosis of the Landau-Kleffner syndrome. The Landau-Kleffner... 
Review Article | Autism | Landau-Kleffner syndrome | Epileptic aphasia | Adrenocorticotropic hormone | Encephalitis | Medical imaging | Child development | Epilepsy | Medical treatment | Linguistics | Histology | Children & youth | Steroids
Journal Article
AJIC: American Journal of Infection Control, ISSN 0196-6553, 2012, Volume 40, Issue 5, pp. 396 - 407
The results of a surveillance study conducted by the International Nosocomial Infection Control Consortium (INICC) from January 2004 through December 2009 in... 
Infectious Disease | Infection Control | Nosocomial infection | Ventilator-associated pneumonia | Low-income countries | Bloodstream infection | Developing countries | Central line-associated bloodstream infection | Limited-resources countries | Health care-associated infection | Urinary tract infection | Catheter-associated urinary tract infection | Network | Antibiotic resistance | Hospital infection | Device-associated infection | MORTALITY | INTENSIVE-CARE UNITS | CONTROL PROGRAM | RATES | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | PERFORMANCE FEEDBACK | SAFETY NETWORK | INFECTIOUS DISEASES | LENGTH-OF-STAY | ARGENTINEAN HOSPITALS | BLOOD-STREAM INFECTIONS | Africa - epidemiology | Prevalence | Prospective Studies | Humans | Middle Aged | Cross Infection - mortality | Child, Preschool | Infant | Male | Young Adult | Aged, 80 and over | Bacteria - classification | Adult | Female | Child | Infant, Newborn | Cross Infection - epidemiology | Latin America - epidemiology | Intensive Care Units | Europe - epidemiology | International Cooperation | Asia - epidemiology | Bacteria - isolation & purification | Adolescent | Bacterial Infections - epidemiology | Aged | Bacterial Infections - mortality | Consortia | Medical colleges | Pneumonia | Hotels and motels | Bacterial pneumonia | Staphylococcus aureus infections | Urinary tract infections | Health aspects | Antibacterial agents | Public health | Infection control | Bacteria | Intensive care | Bacterial infections | Nosocomial infections | Mortality | Index Medicus
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2005, Volume 3, Issue 3, pp. 159 - 163
  We analyzed the treatment of 25 children with infantile spasm, 52% were males and 48% females. Of the cases studied 80% were symptomatic and 20% cryptogenic.... 
ACTH | Infantile spasms | Mental retardation | Epilepsy | Hypsarrhythmia | Seizures | Drugs | Neurology | Medical treatment
Journal Article