Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism

por Gropman, Andrea L., Anderson, Afrouz
Publicado 2020

Surgical treatment of movement disorders in neurometabolic conditions

por Zea Vera, Alonso, Gropman, Andrea L.
Publicado 2023

Multimodal imaging in urea cycle-related neurological disease – What can imaging after hyperammonemia teach us?

por Sen, Kuntal, Whitehead, Matthew T., Gropman, Andrea L.
Publicado 2020

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

por Sen, Kuntal, Harmon, Jennifer, Gropman, Andrea L.
Publicado 2021

MR Neuroimaging in Pediatric Inborn Errors of Metabolism

por Lai, Lillian M., Gropman, Andrea L., Whitehead, Matthew T.
Publicado 2022

Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU

por Khaksari, Kosar, Chen, Wei-Liang, Gropman, Andrea L.
Publicado 2022

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

por Sen, Kuntal, Anderson, Afrouz A., Whitehead, Matthew T., Gropman, Andrea L.
Publicado 2021

Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection

por Sen, Kuntal, Harrar, Dana, Hahn, Andrea, Wells, Elizabeth M., Gropman, Andrea L.
Publicado 2021

Retinoschisis associated with Kearns-Sayre syndrome

por Chertkof, Julia, Hufnagel, Robert B., Blain, Delphine, Gropman, Andrea L., Brooks, Brian P.
Publicado 2020

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

por Hamzik, Mary P., Gropman, Andrea L., Brooks, Michaela R., Powell, Sherida, Sadeghin, Teresa, Samango-Sprouse, Carole A.
Publicado 2023

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency

por Pacheco-Colón, Ileana, Washington, Stuart D., Sprouse, Courtney, Helman, Guy, Gropman, Andrea L., VanMeter, John W.
Publicado 2015

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)

por Samango-Sprouse, Carole A, Counts, Debra R, Tran, Selena L, Lasutschinkow, Patricia C, Porter, Grace F, Gropman, Andrea L
Publicado 2019

Early prediction of phenotypic severity in Citrullinemia Type 1

por Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland
Publicado 2019

Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister–Killian Syndrome and His Unaffected Twin

por Samango-Sprouse, Carole A., Hamzik, Mary P., Rosenbaum, Kenneth, Khaksari, Kosar, Mitchell, Francie, Kommareddi, Ritika, Brooks, Michaela R., Tipton, Elizabeth, Sadeghin, Teresa, Gropman, Andrea L.
Publicado 2022

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

por Varela, Malena Daich, Hufnagel, Robert B., Guan, Bin, Blain, Delphine, Sapp, Julie C., Gropman, Andrea L., Alur, Ramakrishna, Johnston, Jennifer J., Biesecker, Leslie G., Brooks, Brian P.
Publicado 2021

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

por Scharre, Svenja, Posset, Roland, Garbade, Sven F., Gleich, Florian, Seidl, Marie J., Druck, Ann‐Catrin, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias
Publicado 2022

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

por Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias
Publicado 2020

Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome

por Westmark, Cara J., Kniss, Chad, Sampene, Emmanuel, Wang, Angel, Milunovich, Amie, Elver, Kelly, Hessl, David, Talboy, Amy, Picker, Jonathon, Haas-Givler, Barbara, Esler, Amy, Gropman, Andrea L., Uy, Ryan, Erickson, Craig, Velinov, Milen, Tartaglia, Nicole, Berry-Kravis, Elizabeth M.
Publicado 2020

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

por Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A., Prokisch, Holger, Wortmann, Saskia B.
Publicado 2022