C. Scott

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Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease

P. Kaplan, J. Charrow, H. Andersson, 2013 .

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

S. Packman, J. Charrow, R. Desnick, 2015, Journal of Medical Genetics.

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

A. Fellgiebel, R. Hopkin, B. Bénichou, 2015, PloS one.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

P. Kaplan, J. Charrow, H. Andersson, 2017, American journal of hematology.

Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay.

W. Osborne, C. Scott, 1980, American journal of human genetics.

Waiving informed consent in newborn screening research: Balancing social value and respect

B. Wilfond, W. Burke, B. Tarini, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Arslanian, P. Kaplan, J. Charrow, 2004, The Journal of pediatrics.

Hematologically important mutations: Gaucher disease.

E. Beutler, T. Gelbart, C. Scott, 2005, Blood cells, molecules & diseases.

Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.

R. Wennberg, D. Farrell, A. Clark, 1975, Science.

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

Manesh R. Patel, J. Charrow, F. Weidemann, 2013, Genetics in Medicine.

Gaucher's disease in the presence of normal glucocerebrosidase activity.

D. Schofield, J. Lage, C. Scott, 1992, Human pathology.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Emily H Turner, T. Walsh, D. Nickerson, 2013, American journal of human genetics.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

A. Fellgiebel, R. Hopkin, B. Bénichou, 2019, Molecular genetics and metabolism.

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

D. Warnock, S. Shankland, J. Pippin, 2016, PloS one.

A new craniodigital syndrome with mental retardation.

J. Bryant, C. B. Graham, C. Scott, 1971, The Journal of pediatrics.

Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.

S. Chen, M. Zhang, L. Finn, 2000, American journal of medical genetics.

Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme

K. Sims, D. Germain, G. Shepherd, 2008, Genetics in Medicine.

Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions.

C. Teng, N. Hakami, C. Scott, 1972, The Journal of pediatrics.

Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.

L. Tennant, J. O'brien, C. Scott, 1978, American journal of human genetics.

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.

M. Amiri, H. Naim, Birthe Gericke, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Hereditary transcobalamin The role of transcobalamin B12-mediated reactions II deficiency: II in ritamin

C. Teng, N. Hakami, C. Scott, 1972 .

Clinical and cellular studies of sarcosinemia.

C. Teng, C. Scott, S. H. Clark, 1970, The Journal of pediatrics.

Long‐term treatment outcomes in Gaucher disease

J. Charrow, C. Scott, 2015, American journal of hematology.

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

D. Bali, P. Kishnani, R. Jack, 2006, Genetics in Medicine.

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

D. L. Doyle, L. Hudgins, A. Motulsky, 2002, Journal of Genetic Counseling.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

S. Waisbren, M. Grompe, C. V. van Karnebeek, 2017, Genetics in Medicine.

Hematologically important mutations

E. Beutler, T. Gelbart, C. R. Scott, 2005 .

Urinary N-Sulfate Glycosaminoglycan Excretion in Children

D. Lagunoff, P. Pritzl, C. Scott, 1966, Revue de neuropsychiatrie infantile et d'hygiene mentale de l'enfance.

Tyrosinemia Type I

C. Trahms, C. Scott, L. King, 2014, Definitions.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

P. Kaplan, D. Stockton, B. Burton, 2017, The Journal of pediatrics.

The genetic tyrosinemias

C. Scott, 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

P. Kaplan, J. Charrow, H. Andersson, 2004, Seminars in hematology.

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.

P. Kaplan, J. Charrow, H. Andersson, 2000, Archives of internal medicine.

Individualization of long-term enzyme replacement therapy for Gaucher disease

P. Kaplan, J. Charrow, H. Andersson, 2005, Genetics in Medicine.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

P. Kaplan, J. Charrow, H. Andersson, 2002, The American journal of medicine.

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.

P. Kaplan, J. Charrow, C. Scott, 1998, Archives of internal medicine.

The neuropathology of the nonketotic and ketotic hyperglycinemias

R. Shuman, R. Leech, C. Scott, 1978, Neurology.

Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.

S. M. Sumi, D. Farrell, C. Scott, 1978, Journal of neurology, neurosurgery, and psychiatry.

Newborn Screening for Pompe Disease

R. Giugliani, O. Bodamer, C. Scott, 2017, Pediatrics.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Cystathioninemia: a benign genetic condition.

C. Scott, S. H. Clark, C. Scott, 1970, The Journal of pediatrics.

X-linked transmission of ornithine-transcarbamylase deficiency.

S. Goodman, J. Mace, C. Teng, 1972, Lancet.

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

D. Sillence, J. Charrow, C. Eng, 2007, Journal of Inherited Metabolic Disease.

A mucopolysaccharide storage disease with involvement of the renal glomerular epithelium.

D. Lagunoff, P. Pritzl, C. Scott, 1973, The American journal of medicine.

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

R. Hegele, A. McIntyre, Julien L. Marcadier, 2015, Canadian Medical Association Journal.

Hereditary transcobalamin II deficiency presenting as red cell hypoplasia.

D. Christie, D. Benjamin, D. Niebrugge, 1982, The Journal of pediatrics.

-Galactosidase, N-acetyl- -glucosaminidase, and -glucuronidase activity in fibroblast cultures from patients with mucopolysaccharide storage disease.

D. Lagunoff, P. Pritzl, C. Scott, 1973, Biochemical medicine.

Amino Acids in Amniotic Fluid: Changes in Concentrations During the First Half of Pregnancy

T. Nelson, C. Teng, C. Scott, 1972, Pediatric Research.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Jennifer B. McCormick, S. Ekker, N. Giama, 2016, Human mutation.

mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico.

A. Torroni, D. Wallace, O. Semino, 1994, American journal of human genetics.

The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency.

W. Osborne, C. Scott, 1983, Biochemical Journal.

Four Mutations in the SI Gene Are Responsible for the Majority of Clinical Symptoms of CSID

S. Uhrich, Zaining Wu, C. Scott, 2012, Journal of pediatric gastroenterology and nutrition.

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

R. Bennett, R. Wildin, J. Schoof, 1994, American journal of human genetics.

Laboratory studies of a family manifesting premature exfoliation of deciduous teeth.

R. Page, J. Ebersole, C. Scott, 1986, Journal of clinical periodontology.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

John J. Mitchell, S. Lindstedt, E. Holme, 2012, Molecular genetics and metabolism.

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

D. Danks, F. Endo, I. Matsuda, 2000, Molecular genetics and metabolism.

Hawkinsinuria in two families.

W. Nyhan, L. Sweetman, H. Nadler, 1992, American journal of medical genetics.

A rapid assay for urinary porphyrins by thin-layer chromatography.

R. Labbé, C. Scott, J. Nutter, 1967, Clinical chemistry.

Hereditary leukokeratosis, white mouth.

C. Scott, C. Ronald Scott, 1966, The Journal of pediatrics.

MR imaging of phenylketonuria.

E. Weinberger, K. Maravilla, D. Shaw, 1991, AJNR. American journal of neuroradiology.

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

E. Beutler, A. Brautbar, D. Elstein, 2003, Blood cells, molecules & diseases.

Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder.

D. W. Smith, C. Scott, R. Marshall, 1971, The Journal of pediatrics.

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

S. Packman, J. Charrow, R. Desnick, 2015, Journal of Medical Genetics.

Long‐term treatment outcomes in Gaucher disease

J. Charrow, C. Scott, 2015, American journal of hematology.

Formycin B, purine nucleoside phosphorylase and lymphocyte function.

W. Osborne, J. Sullivan, C. Scott, 1980, Immunological communications.

The effect of Mycoplasma contamination on the in vitro assay of pyruvate dehydrogenase activity in cultured fibroblasts.

W. Burke, D. Farrell, A. Clark, 1978, Clinica chimica acta; international journal of clinical chemistry.

Antenatal diagnosis ofKrabbe's leucodystrophy: enzymatic andmorphological confirmation inan affected fetus

D. Farrell, C. Scott, G. Rice, 1978 .