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Documents Swapna Abhyankar, MD National Library of Medicine June 5, 2014 LOINC Committee Meeting.

Slide 1 Swapna Abhyankar, MD National Library of Medicine June 5, 2014 LOINC Committee Meeting Slide 2  Brief overview of newborn screening (NBS)  NBS data standards…

Documents PCRRT for Metabolic Disease

PCRRT for Metabolic Disease Timothy E. Bunchman Professor Pediatrics Signs and Symptoms of Hyperammonemia Initially healthy appearing neonate with decompensation after several…

Documents A Rare Cause of Spasticity and Microcephaly: Argininemia

Soylu Ustkoyuncu et al.; Argininemia A Rare Cause of Spasticity and Microcephaly: Argininemia Spastisite ve Mikrosefalinin Nadir Bir Nedeni: Arjininemi Pembe Soylu Ustkoyuncu1,

Documents The Main Neurological Dysfunctions in HyperargininemiaLiterature Review

The Main Neurological Dysfunctions in Hyperargininemia-Literature ReviewFranzoi et al. Int J Neurol Neurother 2018, 5:074 Citation: Franzoi AEA, Patti MM, Magro DDD, de Lima

Documents Myocyte-mediated Arginase Expression Controls Hyperargininemia but not Hyperammonemia in...

Myocyte-mediated Arginase Expression Controls Hyperargininemia but not Hyperammonemia in Arginase-deficient Miceoriginal article © The American Society of Gene &

Documents Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegiaPaulo Ribeiro Nóbrega,1,2 Anderson Rodrigues Brandão de Paiva,1,3 Bruno Della-Ripa,1

Documents ESTUDOS SOBRE OS MECANISMOS DAS ALTERAÇÕES DO METABOLISMO ENERGÉTICO E DAS...

(Microsoft Word - TESE DOUTORADO D\311BORA 2.doc)UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL ESTUDOS SOBRE OS MECANISMOS DAS ALTERAÇÕES DO METABOLISMO ENERGÉTICO

Documents Newborn Screening for Disorders of Amino Acid Metabolism, Urea Cycle Metabolism, and Organic acid...

Newborn Screening for Disorders of Amino Acid MetabolismCycle Metabolism, and Organic acid  Metabolism AMINO ACIDS • Amino acids are the building blocks that proteins 

Documents Arginase deficiency

Arginase deficiencyArginase deficiency Description Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia

Documents Neuroimaging Findings in Hyperargininemia

jon_217_LRNeuroimaging Findings in Hyperargininemia Serdal Gungor, Aysehan Aknc, Ahmet Kemal Frat, Ylmaz Tabel, Alpay Alkan From the Inonu University, Faculty of Medicine,