Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant

por Gropman, Andrea, Chiaramello, Anne
Publicado 2018

The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant

por Gropman, Andrea, Chiaramello, Anne
Publicado 2019

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

Neuromonitoring in Rare Disorders of Metabolism

por Castillo-Pinto, Carlos, Sen, Kuntal, Gropman, Andrea
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

Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy

por Uittenbogaard, Martine, Gropman, Andrea, Brantner, Christine A., Chiaramello, Anne
Publicado 2018

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

Editorial: New Therapeutic Options for Rare Diseases

por Meyer, Sascha, Yeh, E. Ann, Brunner, Jürgen, Semler, Oliver, Gropman, Andrea
Publicado 2022

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

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childh...

por Gropman, Andrea, Uittenbogaard, Martine, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Chiaramello, Anne
Publicado 2020

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

por Anderson, Afrouz A., Gropman, Andrea, Le Mons, Cynthia, Stratakis, Constantine A., Gandjbakhche, Amir H.
Publicado 2020

The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency

por McGowan, Meaghan, Ferreira, Carlos, Whitehead, Matthew, Basu, Sudeepta K., Chang, Taeun, Gropman, Andrea
Publicado 2021

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

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

por Uittenbogaard, Martine, Sen, Kuntal, Whitehead, Matthew, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Gropman, Andrea, Chiaramello, Anne
Publicado 2021