Physician

Medical Genetics

Dr. Wendy J. Introne is an expert in the field of Medical Genetics. She attended University of New Mexico School of Medicine. University of New Mexico School of Medicine has a rank of 83 in research and a 35 in primary care She over the years received 1 awards: "Fellow (FAAP)". Dr. Wendy J. Introne is a published doctor. She has 16 papers published. The most current publication "Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism."

Publications

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• Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.
• 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
• Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.
• Aortic stenosis and vascular calcifications in alkaptonuria.
• A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
• Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.
• Phenotype and course of Hutchinson-Gilford progeria syndrome.
• Natural history of alkaptonuria.
• Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
• Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.
• Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
• Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
• Homogentisic acid interference in routine urine creatinine determination.
• Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
• Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome.

Schools

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• University of New Mexico Main Campus

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Fellow (FAAP)

Education

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• National Institutes of Health Clinical Center
• Children's National Medical Center - George Washington University
• University of New Mexico School of Medicine

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