Last Updated: 09/26/2026
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Found 19 publications
The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients.
Journal: WMJ : official publication of the State Medical Society of Wisconsin
Published: January 01, 2024
Best practice recommendation: advanced practice providers contract terms and negotiations.
Journal: iGIE : innovation, investigation and insights
Published: March 27, 2023
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
Journal: Journal of child neurology
Published: April 26, 2021
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Journal: Molecular genetics and metabolism reports
Published: October 14, 2020
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: April 03, 2020
Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
Journal: Public health reports (Washington, D.C. : 1974)
Published: November 05, 2019
Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.
Journal: Clinical case reports
Published: January 14, 2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
Journal: American journal of medical genetics. Part A
Published: January 02, 2019
Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.
Journal: Paediatric anaesthesia
Published: December 03, 2017
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
Journal: American journal of medical genetics. Part A
Published: December 02, 2016
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.
Journal: Molecular genetics and metabolism reports
Published: May 12, 2016
Last Updated: 09/26/2026