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PEDIATRICS, ISSN 0031-4005, 08/2019, Volume 144, Issue 2, p. e20184101
A proposed tiered framework for the evaluation and management of a higher-risk infant after a BRUE. In 2016, the American Academy of Pediatrics published a... 
INFECTIONS | REFLUX | INJURY | PEDIATRICS | LIFE-THREATENING EVENTS | DEATH | CLINICAL DECISION RULE | HISTORY | Care and treatment | Arrhythmia | Analysis | Practice guidelines (Medicine) | Birth defects | Infants | Diagnosis | Pediatric research | Health aspects | Pediatrics | Evaluation | Abnormalities | Epilepsy | Risk | Respiratory tract | Child abuse | Airway management | Dysphagia | Clinical medicine | Risk management
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 601 - 607
Purpose: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described... 
epilepsy | intragenic deletion | developmental delay DNA copy-number variation | exome sequencing | METABOLIC CRISES | GENETICS & HEREDITY
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1899 - 1899
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt.... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2019, Volume 127, Issue 4, pp. 336 - 345
Glycerol phenylbutyrate (GPB) is currently approved for use in the US and Europe for patients of all ages with urea cycle disorders (UCD) who cannot be managed... 
Glycerol phenylbutyrate | Urea cycle disorders | Ammonia, glutamine | Long-term treatment | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | AMMONIA CONTROL | SYMPTOMS | SODIUM PHENYLBUTYRATE | CHILDREN | Glycerin | Glycerol | Urea
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2733 - 2739
CACNA1C (NM_000719.6) encodes an L‐type calcium voltage‐gated calcium channel (Cav1.2), and pathogenic variants have been associated with two distinct clinical... 
exome sequencing | CACNA1C | neonatal onset epileptic encephalopathy | electroencephalogram | epileptic encephalopathy | LONG-QT | ALPHA(1C) | CALCIUM-CHANNELS | GENETICS & HEREDITY | OF-FUNCTION MUTATIONS | CA(V)1.2 | ARRHYTHMIA | Heart | Neonates | Phenotypes | Congenital diseases | Calcium | Cardiomyopathy | Epilepsy | Calcium channels (voltage-gated) | Encephalopathy
Journal Article
by Posset, Roland and Garbade, Sven F and Boy, Nikolas and Burlina, Alberto B and Dionisi-Vici, Carlo and Dobbelaere, Dries and Garcia-Cazorla, Angeles and de Lonlay, Pascale and Teles, Elisa Leão and Vara, Roshni and Ah Mew, Nicholas and Batshaw, Mark L and Baumgartner, Matthias R and McCandless, Shawn and Seminara, Jennifer and Summar, Marshall and Hoffmann, Georg F and Kölker, Stefan and Burgard, Peter and Berry, Susan A and Burrage, Lindsay and Coughlin, Curtis and Diaz, George A and Gallagher, Renata C and Gropman, Andrea and Harding, Cary O and Lee, Brendan and Le Mons, Cynthia and Merritt, J. Lawrence and Nagamani, Sandesh C. S and Schulze, Andreas and Stricker, Tamar and Tuchman, Mendel and Waisbren, Susan and Weisfeld-Adams, James and Wong, Derek and Yudkoff, Marc and Arnoux, Jean-Baptiste and Barić, Ivo and Bosch, Annet M and Chabrol, Brigitte and Chakrapani, Anupam and Cortès-Saladefont, Elisenda and Couce, Maria L and de Laet, Corine and de Meirleir, Linda and Eyskens, Francois and Freisinger, Peter and Gleich, Florian and Grünewald, Stephanie and Häberle, Johannes and Hwu, Wuh-Liang and Jalan, Anil and Karall, Daniela and Lindner, Martin and Lund, Allan M and Martinelli, Diego and Murphy, Elaine and Mühlhausen, Chris and Olivieri, Giorgia and Ottolenghi, Chris and Rodrigues, Esmeralda and Rubert, Laura and Sarajlija, Adrijan and Schiff, Manuel and Sokal, Etienne and Sykut-Cegielska, Jolanta and Walter, John H and Williams, Monique and Zeman, Jiri and Additional individual contributors of the UCDC and the E-IMD consortium
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, pp. 1 - 13
To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. Description of... 
Ammonium | Phenotypes | Risk groups | Syngeneic grafts | Data processing | Medical screening | Patients | Urea | Databases | Allografts | Diagnosis | Ornithine | Comparative analysis | Liver transplantation
Journal Article
Pediatrics, ISSN 0031-4005, 05/2016, Volume 137, Issue 5, pp. 1 - 1
This is the first clinical practice guideline from the American Academy of Pediatrics that specifically applies to patients who have experienced an apparent... 
Journal Article
Pediatrics, ISSN 0031-4005, 05/2016, Volume 137, Issue 5, pp. 1 - 1
This clinical practice guideline has 2 primary objectives. First, it recommends the replacement of the term apparent life-threatening event with a new term,... 
Journal Article
Pediatrics International, ISSN 1328-8067, 12/2013, Volume 55, Issue 6, pp. e156 - e158
Deficiency in methylmalonyl‐coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death... 
methylmalonic acidemia | cobalamin metabolism | newborn screening | asymptomatic | PEDIATRICS | ACIDURIA | Methylmalonyl-CoA Mutase - genetics | Homozygote | Amino Acid Metabolism, Inborn Errors - genetics | Humans | Child, Preschool | Female | Male | Asymptomatic Diseases | Mutation | Infant, Newborn | Newborn babies | Medical screening | Metabolism | Genes | Vitamin B
Journal Article
Orphan Drugs: Research and Reviews, ISSN 2230-6161, 04/2015, Volume 5, pp. 33 - 40
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2013, Volume 108, Issue 2, pp. S46 - S46
Journal Article
Pediatrics International, ISSN 1328-8067, 12/2013, Volume 55, Issue 6, pp. e156 - e158
Journal Article