Role of elosulfase alfa in mucopolysaccharidosis IVA

por Regier, Debra S, Tanpaiboon, Pranoot
Publicado 2016

LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations

por Kanderi, Navya, Kirmse, Brian, Regier, Debra S., Chapman, Kimberly A.
Publicado 2022

A pandemic will not stop metabolic innovation

por MacLeod, Erin, Starin, Danielle, Ah Mew, Nicholas, Regier, Debra S.
Publicado 2020

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy‐based formula

por Sabatino, Julia A., Starin, Danielle, Tuchman, Shamir, Ferreira, Carlos, Regier, Debra S.
Publicado 2019

Maple syrup urine disease decompensation misdiagnosed as a psychotic event

por Higashimoto, Tomoyasu, Whitehead, Matthew T., MacLeod, Erin, Starin, Danielle, Regier, Debra S.
Publicado 2022

Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries

por Regier, Debra S., Ferreira, Carlos R., Hart, Suzanne, Hadley, Donald W., Muenke, Maximilian
Publicado 2017

Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates

por Regier, Debra S., Bąk, Agata, Bausell, Heather, O'Reilly, Emer, Cowsert, Lex M.
Publicado 2022

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

por Ferreira, Carlos R., Regier, Debra S., Hadley, Donald W., Hart, P. Suzanne, Muenke, Maximilian
Publicado 2017

The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study

por Regier, Debra S., Weaver, Jennifer A., Cheng, Nancy, Batshaw, Mark L., Ottolini, Mary, Shy, Michael E., Summar, Marshall L.
Publicado 2022

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

por Raval, Donna B., Cusmano-Ozog, Kristina P., Ayyub, Omar, Jenevein, Callie, Kofman, Laura H., Lanpher, Brendan, Hauser, Natalie, Regier, Debra S.
Publicado 2016

OR19-4 High Prevalence of Primary Hypothyroidism in Patients with Alkaptonuria Eighteen Years of Experience

por Avadhanula, Shirisha, Introne, Wendy, Soldin, Steven, Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando, Burman, Kenneth, Klubo-Gwiezdzinska, Joanna
Publicado 2019

Assessment of Thyroid Function in Patients With Alkaptonuria

por Avadhanula, Shirisha, Introne, Wendy J., Auh, Sungyoung, Soldin, Steven J., Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando C., Burman, Kenneth D., Klubo-Gwiezdzinska, Joanna
Publicado 2020

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

por van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J. M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A. L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B. A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, Santen, Gijs W. E.
Publicado 2021