C Ronald Scott


Ontology type: schema:Person     


Person Info

NAME

C Ronald

SURNAME

Scott

Publications in SciGraph latest 50 shown

  • 2017-12 Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations in GENETICS IN MEDICINE
  • 2015 Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures in JIMD REPORTS, VOLUME 30
  • 2014 Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures in JIMD REPORTS, VOLUME 30
  • 2013-12 Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry in GENETICS IN MEDICINE
  • 2013-05 VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau in THE JOURNAL OF PHYSIOLOGICAL SCIENCES
  • 2012-08 AKT3, ANGPTL4, eNOS3, and VEGFA associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2008-05 Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme in GENETICS IN MEDICINE
  • 2007-04 Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2007 Newborn Screening for Lysosomal Storage Disorders in LYSOSOMAL STORAGE DISORDERS
  • 2007 Tandem Mass Spectrometry in the Detection of Inborn Errors of Metabolism for Newborn Screening in QUANTITATIVE PROTEOMICS BY MASS SPECTROMETRY
  • 2006-05 The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease in GENETICS IN MEDICINE
  • 2005-02 Individualization of long-term enzyme replacement therapy for Gaucher disease in GENETICS IN MEDICINE
  • 2002-04 Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors in JOURNAL OF GENETIC COUNSELING
  • 2000-01 Focal abdominal wall hernias and pre-axial toe polydactyly define distinct phenotypes and etiologies for infants of diabetic mothers and the VATER Association in GENETICS IN MEDICINE
  • 1997-05 The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians in HUMAN GENETICS
  • 1994-11 Gene frequencies of alcohol dehydrogenase2 (ADH2) and aldehyde dehydrogenase2 (ALDH2) in five Chinese minorities in HUMAN GENETICS
  • 1992-05 Gene frequencies of alcohol dehydrogenase2 and aldehyde dehydrogenase2 in Northwest Coast Amerindians in HUMAN GENETICS
  • 1991-06 CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series in HUMAN GENETICS
  • 1989-06 The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561 in HUMAN GENETICS
  • 1987-07 MspI polymorphic site within the Factor IX gene in HUMAN GENETICS
  • 1981-05 Use of genetic markers to certify fetal origin of cultured amniotic fluid cells in HUMAN GENETICS
  • 1977-04 HUMAN LYMPHOCYTE TRANSFORMATION FOLLOWING INHIBITION OF PURINE NUCLEOSIDE PHOSPHORYLASE in PEDIATRIC RESEARCH
  • 1974-04 COMBINED IMMUNODEFICIENCY DISEASE CAUSED BY ADENOSINE DEAMINASE DEFICIENCY: DETECTION OF THE CARRIER STATE AND IDENTIFICATION OF A SILENT ALLELE (ADA) in PEDIATRIC RESEARCH
  • 1973-09 The genetics of glutamic-pyruvic transaminase in mice: Inheritance, electrophoretic phenotypes, and postnatal changes in BIOCHEMICAL GENETICS
  • 1972-08 Amino Acids in Amniotic Fluid: Changes in Concentrations During the First Half of Pregnancy in PEDIATRIC RESEARCH
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