GeorgeAlfredDiazMDPhD

PubMed

• 215 citations
  Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
  Rong Chen, Lisong Shi, Jörg Hakenberg, Brian Thomas Naughton, Pamela Sklar
  Nature Biotechnology. 2016-05-01
• 59 citations
  Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
  Jerry Vockley, Joel Charrow, Jaya Ganesh, M. Eswara, George A. Diaz
  Molecular Genetics and Metabolism. 2016-11-01
• 4 citations
  The role and control of arginine levels in arginase 1 deficiency.
  George A Diaz, Mark Bechter, Stephen D Cederbaum
  Journal of Inherited Metabolic Disease. 2023-01-01

Journal Articles

• Glutamine and Hyperammonemic Crises in Patients with Urea Cycle Disorders  
  Lee B, Diaz GA, Rhead WR, et al, Mol Genet Metab, 1/1/2016
• Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project  
  Linderman MD, Sanderson SC, Sukiel SA, et al, Eur J Hum Genet, 1/1/2016
• Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate  
  Hook D, Diaz GA, Lee B, et al, Mol Genet Metab Rep, 1/1/2016
• Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss  
  Webb BD, Wheeler PG, Hagen JJ, et al, Hum Mutat, 1/1/2015
• Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance  
  Weisfeld-Adams JD, McCourt EA, Diaz GA, et al, Mol Genet Metab, 1/1/2015
• Blood ammonia and glutamine as predictors of hyperammonemic crises in urea cycle disorder patients  
  Lee B, Diaz GA, Rhead WR, et al, Genet in Med, 1/1/2015
• Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials  
  Nagamani SC, Diaz GA, Rhead W, et al, Mol Genet Metab, 1/1/2015
• Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency  
  Wasserstein MP, Jones SA, Soran H, et al, Mol Genet Metab, 1/1/2015
• Preparing the next generation of genomicists: a laboratory-style course in medical genomics  
  Linderman MD, Bashir A, Diaz GA, et al, BMC Med Genomics, 1/1/2015
• Human Recombinant Arginase Enzyme Reduces Plasma Arginine in Mouse Models of Arginase Deficiency  
  Burrage LC, Sun Q, Elsea SH, et al, Hum Mol Genet, 1/1/2015
• How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study  
  Sanderson SC, Linderman MD, Zinberg R, et al, Genet in Med, 1/1/2015
• ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories  
  Wang J, Liao J, Zhang J, et al, Genome Med, 1/1/2015
• Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders  
  Burrage LC, Jain M, Gandolfo L, et al, Mol Genet Metab, 1/1/2014
• A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population  
  Webb BD, Brandt T, Liu L, et al, Clin Genet, 1/1/2014
• Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency  
  Mc Guire P, Tarasenko TN, Wang T, et al, Dis Model Mech, 1/1/2014
• Glycerol Phenylbutyrate Treatment in Children with Urea Cycle Disorders: Pooled Analysis of Short and Long-term Ammonia Control and Outcomes  
  Berry SA, Lichter-Konecki U, Diaz GA, et al, Mol Genet Metab, 1/1/2014
• Exome-wide genotyping identifies new rare and low-frequency coding variants associated with hematological traits  
  Auer PL, Teumer A, Schick U, et al, Nat Genet, 1/1/2014
• A longitudinal study of urea cycle disorders  
  Batshaw ML, Tuchman M, Summar M, et al, Mol Genet Metab, 1/1/2014
• Glycerol phenylbutyrate for the chronic management of urea cycle disorders  
  Oishi K and Diaz GA, Expert Rev Endocrin Metab, 1/1/2014
• Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders (UCDs); Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate  
  W Smith, GA Diaz, U Lichter-Konecki, SA Berry, et al, J Pediatrics, 1/1/2013
• Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ  
  Ah Mew N, Krivitzky L, McCarter R, et al, J Pediatr, 1/1/2013
• Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: A Longitudinal Cohort Study  
  Sanderson SC, Linderman M, Kasarskis A, et al, Genome Med, 1/1/2013
• Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult ...  
  Monteleone JP, Mokhtarani M, Diaz GA, et al, J Clin Pharmacol, 1/1/2013
• Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin c type  
  Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, et al, Mol Genet Metab, 1/1/2013
• Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on th...  
  Mokhtarani M, Diaz GA, Rhead W, et al, Mol Genet Metab, 1/1/2013
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Books/Book Chapters

• Hyperammonemia 
  Chapter: New Treatment Options for Hyperammonemia 
  Diaz GAEditors: Haberle J.Future Medicine Ltd., London, United Kingdom2014
• Molecular Genetic Pathology 
  Chapter: Biochemical Genetics and Inborn Errors of Metabolism 
  Yu C, Wasserstein MP, Diaz GAEditors: Cheng L and Zhang DY.Springer Science and Business Media, New York, NYEdition 2nd,2014
• Primary Immunodeficiency Diseases 
  Chapter: WHIM Syndrome 
  Diaz GAEditors: Ochs HD et al.Oxford University Press, New York, NYEdition 3rd,2013
• Fetal and Neonatal Physiology 
  Chapter: Advances in Molecular Genetics: Clinical and Developmental Implications 
  Diaz GA and Hirschhorn KEditors: Polin RA et al.Elsevier Science, Philadelphia, PAEdition 3rd,2011
• Inborn Errors of Development 
  Chapter: Mutation of TBCE in the syndrome of hypoparathyroidism- retardation-dysmorphism (HRD) 
  Diaz GA, Parvari R, Hershkovitz EEditors: Epstein CJ, Erickson RJ, Wynshaw-Boris A.Oxford University Press USA, New York, NY2007
• Thiamine: Catalytic Mechanisms and Role in Normal and Disease States 
  Chapter: Thiamin-responsive megaloblastic anemia syndrome: Clinical aspects and molecular genetics 
  Oishi K, Diaz GA, Gelb BDEditors: Jordan F, Patel MC.Marcel Dekker, New York, NY2003
• National Organization of Rare Diseases: The NORD Guide to Rare Disorders 
  Chapter: Kenny-Caffey Syndrome 
  Diaz GALippincott, Williams & Wilkins, Philadelphia, PA2002
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Lectures

• Urinary phenylacetylglutamine (U-PAGN) concentration as an adherence biomarker for patients with urea cycle disorders (UCDs) treated with glycerol phenylbutyrate (GPB). 
  1/1/2015
• Metabolic Emergencies 
  Englewood Hospital Medical Center, Englewood, NJ - 1/1/2015
• Genetics Basics and Overview of New Technologies 
  Beth Israel Hospital, New York, NY - 1/1/2015
• Age Is No Barrier: Time to Consider Late-Onset UCDs 
  Salt Lake City, UT - 1/1/2015
• The Metabolic Emergency: Acute Presentations of Inborn Errors of Metabolism 
  Brooklyn Hospital Center, New York, NY, 2006, 2008, 2010, 2015 - 1/1/2015
• Treatment-Related Signs And Symptoms Among Patients With Urea Cycle Disorders (UCDs) During Treatment With Sodium Phenylbutyrate (NaPBA) And Glycerol Phenylbutyrate (G... 
  1/1/2014
• Genetic Testing for the Practitioner: The Old and the New 
  Mount Sinai Medical Center, New York, NY - 1/1/2014
• Genetic Testing for the Pediatrician 
  Brooklyn Hospital Center, Brooklyn, NY - 1/1/2014
• The Role Of Inflammation And Oxidative Damage In Brain Injury During Metabolic Decompensation. 
  1/1/2014
• Simulated dosing of glycerol phenylbutyrate (GBP) and sodium phenylbutyrate (NaPBA) predicts systemic phenylacetic exposure in adult and pediatric patients with urea c... 
  1/1/2013
• The plasma ratio of phenylacetic acid (PAA) to phenylacetylglutamine (PAGN): a potential biomarker for patients at risk of elevated PAA levels. 
  1/1/2013
• Ammonia (NH3) amino acid and hyperammonemic crises (HACs) in pediatric and adult patients with urea cycle disorders (UCDs) during dosing with sodium phenylbutyrate (Na... 
  1/1/2013
• Medical Advances in Urea Cycle Disorders 
  Phoenix, AZ - 1/1/2013
• The Hyperammonemic Child: Update on Urea Cycle Disorders 
  Stony Brook Medical Center, Stony Brook, NY - 1/1/2013
• Ammonia control and improved neurocognitive outcome among urea cycle disorder (UCD) patients treated with glycerol phenylbutyrate (GPB). 
  1/1/2012
• Population PK analysis of glycerol phenylbutyrate (GPB) and sodium phenylbutyrate (NAPBA) in adult and pediatric patients with urea cycle disorders (UCD). 
  1/1/2012
• Plasma metabolite profiles in eleven children diagnosed with combined methylmalonic acidemia and homocystinuria, Cobalamin C type, on newborn screening and treated sin... 
  1/1/2012
• Prolonged QTc in isolated methylmalonic acidemia. 
  1/1/2012
• Hematopoietic stem cell transplantation in a patient with WHIM Syndrome and pancytopenia. 
  1/1/2012
• Treatment of N-acetylglutamate synthetase deficiency with carglumic acid (Carbaglu). 
  1/1/2012
• Cytokine depression of urea cycle function: A focus on ornithine transcarbamylase. 
  1/1/2012
• Newborn Metabolic Screening: 2012 and Beyond 
  Hilton Head, SC - 1/1/2012
• Management of Acute Metabolic Crises 
  Bronx Lebanon Hospital, Bronx, NY - 1/1/2012
• Combined methylmalonic acidemia and homocystinuria, cblC type: a prospective clinical protocol focusing on neurologic and neurodevelopmental parameters in a cohort of ... 
  1/1/2012
• Ammonia (NH3) control and improved neurocognitive outcome among urea cycle disorder (UCD) patients treated with glycerol phenylbutyrate (GPB). 
  1/1/2012
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Other

• Thiamine-Responsive Megaloblastic Anemia Syndrome 
  Oishi K, Diaz GA, GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, Univer
  http://www.genetests.org
  1/1/2010