Works by Gropman, A.

Results: 113

Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1386, doi. 10.3390/ijms25031386

By:

Uittenbogaard, Martine;
Gropman, Andrea L.;
Whitehead, Matthew T.;
Brantner, Christine A.;
Gropman, Eliana;
Chiaramello, Anne

Publication type:

Article

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 279, doi. 10.1111/cge.14746

By:

Callahan, Nora C.;
Mahida, Sonal;
Sveden, Abigail;
Quinn, Meg;
Chopra, Maya;
Srivastava, Siddharth;
Wasserstein, M.;
Chopra, M.;
Sahin, M.;
Wangler, M.;
Schultz, B.;
Izumi, K.;
Gropman, A.;
Smith‐Hicks, C.;
Abbeduto, L.;
Hazlett, H.;
German, K.;
DaWalt, L.;
Neul, J.;
Constantino, J.

Publication type:

Article

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.

Published in:

SAGE Open Medicine, 2024, p. 1, doi. 10.1177/20503121241282401

By:

Protic, Dragana;
Breeze, Elizabeth;
Mendoza, Guadalupe;
Zafarullah, Marwa;
Abbeduto, Leonard;
Hagerman, Randi;
Coffey, Christopher;
Cudkowicz, Merit;
Durbin-Johnson, Blythe;
Ashwood, Paul;
Berry-Kravis, Elizabeth;
Erickson, Craig A.;
Filipink, Robin;
Gropman, Andrea;
Lehwald, Lenora;
Maxwell-Horn, Angela;
Morris, Stephanie;
Bennett, Amanda Palladino;
Prock, Lisa;
Talboy, Amy

Publication type:

Article

A 2-year-old Male with Developmental Delay, Irritability, and Failure to Thrive.

Published in:

Pediatric Annals, 2008, v. 37, n. 7, p. 459, doi. 10.3928/00904481-20080701-01

By:

Hsieh, David T.;
Gropman, Andrea L.;
Pearl, Phillip L.

Publication type:

Article

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome.

Published in:

Acta Paediatrica, 2011, v. 100, n. 6, p. 861, doi. 10.1111/j.1651-2227.2011.02252.x

By:

Samango-Sprouse, Carole A.;
Gropman, Andrea L.;
Sadeghin, Teresa;
Kingery, Madison;
Lutz-Armstrong, Margaret;
Rogol, Alan D.

Publication type:

Article

Urea cycle defects and hyperammonemia: effects on functional imaging.

Published in:

Metabolic Brain Disease, 2013, v. 28, n. 2, p. 269, doi. 10.1007/s11011-012-9348-0

By:

Gropman, Andrea;
Prust, Morgan;
Breeden, Andrew;
Fricke, Stanley;
VanMeter, John

Publication type:

Article

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

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 76, doi. 10.3390/ijns7040076

By:

Sen, Kuntal;
Harmon, Jennifer;
Gropman, Andrea L.

Publication type:

Article

The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X20985179

By:

McGowan, Meaghan;
Ferreira, Carlos;
Whitehead, Matthew;
Basu, Sudeepta K.;
Chang, Taeun;
Gropman, Andrea

Publication type:

Article

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

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X20985179

By:

McGowan, Meaghan;
Ferreira, Carlos;
Whitehead, Matthew;
Basu, Sudeepta K.;
Chang, Taeun;
Gropman, Andrea

Publication type:

Article

Awakening‐Related Bouts of Severe Opisthotonos in GNAO1.

Published in:

Movement Disorders Clinical Practice, 2023, v. 10, n. 11, p. 1698, doi. 10.1002/mdc3.13873

By:

Zea Vera, Alonso;
DiSabella, Marc;
Tochen, Laura;
Meltzer, Meira;
Gropman, Andrea

Publication type:

Article

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

Published in:

Clinical Case Reports, 2018, v. 6, n. 12, p. 2376, doi. 10.1002/ccr3.1868

By:

Uittenbogaard, Martine;
Gropman, Andrea;
Brantner, Christine A.;
Chiaramello, Anne

Publication type:

Article

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668

By:

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;
Ah Mew, Nicholas;
Baumgartner, Matthias R.;
Berry, Gerard T.;
Berry, Susan A.;
Burrage, Lindsay;
Diaz, George A.;
Ficicioglu, Can;
Kisin, Genya

Publication type:

Article

Early prediction of phenotypic severity in Citrullinemia Type 1.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1858, doi. 10.1002/acn3.50886

By:

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

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 191, doi. 10.2147/TACG.S180450

By:

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

Publication type:

Article

Imaging of neurogenetic and neurometabolic disorders of childhood.

Published in:

Current Neurology & Neuroscience Reports, 2004, v. 4, n. 2, p. 139, doi. 10.1007/s11910-004-0028-2

By:

Gropman, Andrea

Publication type:

Article

Diagnosis and treatment of childhood mitochondrial diseases.

Published in:

Current Neurology & Neuroscience Reports, 2001, v. 1, n. 2, p. 185, doi. 10.1007/s11910-001-0015-9

By:

Gropman, Andrea

Publication type:

Article

Assessing Environmental Justice in Mexico: How Polluting Industries and Healthcare Disparities Impact Congenital Heart Defects.

Published in:

Birth Defects Research, 2025, v. 117, n. 3, p. 1, doi. 10.1002/bdr2.2463

By:

Talayero, Maria Jose;
Santos‐Burgoa, Carlos;
Kuiper, Jordan;
Canales, Robert;
Gropman, Andrea

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.632307

By:

Sen, Kuntal;
Anderson, Afrouz A.;
Whitehead, Matthew T.;
Gropman, Andrea L.

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00809

By:

Anderson, Afrouz A.;
Gropman, Andrea;
Le Mons, Cynthia;
Stratakis, Constantine A.;
Gandjbakhche, Amir H.

Publication type:

Article

SYNGAP1 Syndrome and the Brain Gene Registry.

Published in:

Genes, 2025, v. 16, n. 4, p. 405, doi. 10.3390/genes16040405

By:

Greco, Melissa R.;
Chatterjee, Maya;
Taylor, Alexa M.;
Gropman, Andrea L.

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 7, p. 1402, doi. 10.3390/genes14071402

By:

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

Publication type:

Article

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

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101690

By:

Khaksari, Kosar;
Chen, Wei-Liang;
Gropman, Andrea L.

Publication type:

Article

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

Published in:

Nutrients, 2022, v. 14, n. 17, p. 3605, doi. 10.3390/nu14173605

By:

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

Publication type:

Article

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

Published in:

Nutrients, 2020, v. 12, n. 10, p. 3136, doi. 10.3390/nu12103136

By:

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.

Publication type:

Article

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.

Published in:

Annals of Neurology, 2003, v. 54, n. s6, p. S66

By:

Andrea Gropman

Publication type:

Article

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.

Published in:

2003

By:

Gropman A

Publication type:

Journal Article

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.

Published in:

Annals of Neurology, 2001, v. 49, n. 6, p. 706, doi. 10.1002/ana.1023

By:

Wagner, Kathryn R.;
Hamed, Sherifa;
Hadley, Donald W.;
Gropman, Andrea L.;
Burstein, Aaron H.;
Escolar, Diana M.;
Hoffman, Eric P.;
Fischbeck, Kenneth H.

Publication type:

Article

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post-mortem diagnosis.

Published in:

Developmental Medicine & Child Neurology, 2011, v. 53, n. 6, p. 487, doi. 10.1111/j.1469-8749.2011.03920.x

By:

GROPMAN, ANDREA L.

Publication type:

Article

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Published in:

Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983

By:

Zielonka, Matthias;
Garbade, Sven F.;
Gleich, Florian;
Okun, Jürgen G.;
Nagamani, Sandesh C. S.;
Gropman, Andrea L.;
Hoffmann, Georg F.;
Kölker, Stefan;
Posset, Roland;
Ah Mew, Nicholas;
Burrage, Lindsay C.;
Schulze, Andreas;
Berry, Susan A.;
Baumgartner, Matthias R.;
Diaz, George A.;
Merritt, J. Lawrence;
Bedoyan, Jirair K.;
Wong, Derek;
Harding, Cary O.;
Yudkoff, Marc

Publication type:

Article

Cover Image, Volume 38, Issue 10.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317

By:

Oprescu, Stephanie N.;
Chepa‐Lotrea, Xenia;
Takase, Ryuichi;
Golas, Gretchen;
Markello, Thomas C.;
Adams, David R.;
Toro, Camilo;
Gropman, Andrea L.;
Hou, Ya‐Ming;
Malicdan, May Christine V.;
Gahl, William A.;
Tifft, Cynthia J.;
Antonellis, Anthony

Publication type:

Article

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287

By:

Oprescu, Stephanie N.;
Chepa‐Lotrea, Xenia;
Takase, Ryuichi;
Golas, Gretchen;
Markello, Thomas C.;
Adams, David R.;
Toro, Camilo;
Gropman, Andrea L.;
Hou, Ya‐Ming;
Malicdan, May Christine V.;
Gahl, William A.;
Tifft, Cynthia J.;
Antonellis, Anthony

Publication type:

Article

Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy.

Published in:

Ultrasound in Obstetrics & Gynecology, 2023, v. 62, n. 2, p. 266, doi. 10.1002/uog.26201

By:

Samango‐Sprouse, C. A.;
Grati, F. R.;
Brooks, M.;
Hamzik, M. P.;
Khaksari, K.;
Gropman, A.;
Taylor, A.;
Malvestiti, F.;
Grimi, B.;
Liuti, R.;
Milani, S.;
Chinetti, S.;
Trotta, A.;
Agrati, C.;
Repetti, E.;
Martin, K. A.

Publication type:

Article

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/7024735

By:

Barkovich, E.;
Gropman, A. L.

Publication type:

Article

DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.

Published in:

Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01123-4

By:

Lee, Richard S.;
Song, Sophia Q.;
Garrison-Desany, Henri M.;
Carey, Jenny L.;
Lasutschinkow, Patricia;
Zabel, Andrew;
Bressler, Joseph;
Gropman, Andrea;
Samango-Sprouse, Carole

Publication type:

Article

Nckβ Interacts with Tyrosine-Phosphorylated Disabled 1 and Redistributes in Reelin-Stimulated Neurons.

Published in:

Molecular & Cellular Biology, 2003, v. 23, n. 20, p. 7210, doi. 10.1128/MCB.23.20.7210-7221.2003

By:

Pramatarova, Albéna;
Ochalski, Pawel G.;
Chen, Kelian;
Gropman, Andrea;
Myers, Sage;
Min, Kyung-Tai;
Howell, Brian W.

Publication type:

Article

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).

Published in:

2020

By:

Samango‐Sprouse, Carole A.;
Porter, Grace F.;
Lasutschinkow, Patricia C.;
Tran, Selena L.;
Sadeghin, Teresa;
Gropman, Andrea L.;
Samango-Sprouse, Carole A

Publication type:

journal article

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome).

Published in:

2017

By:

Samango‐Sprouse, Carole;
Keen, Colleen;
Sadeghin, Teresa;
Gropman, Andrea

Publication type:

journal article

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

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67496-3

By:

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;
Urea Cycle Disorders Consortium (UCDC);
Ah Mew, Nicholas;
Berry, Susan A.;
McCandless, Shawn E.;
Coughlin, Curtis;
Enns, Gregory

Publication type:

Article

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.

Published in:

Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.808006

By:

Song, Sophia Q.;
Gropman, Andrea;
Benjamin, Robert W.;
Mitchell, Francie;
Brooks, Michaela R.;
Hamzik, Mary P.;
Sampson, Kira;
Kommareddi, Ritika;
Sadeghin, Teresa;
Samango-Sprouse, Carole A.

Publication type:

Article

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 320, doi. 10.1080/13816810.2021.1888127

By:

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

Publication type:

Article

Response to Finsterer's "Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome".

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 1, p. 100, doi. 10.1080/13816810.2020.1832295

By:

Chertkof, Julia;
Hufnagel, Robert B.;
Blain, Delphine;
Gropman, Andrea L.;
Brooks, Brian P.

Publication type:

Article

Retinoschisis associated with Kearns-Sayre syndrome.

Published in:

Ophthalmic Genetics, 2020, v. 41, n. 5, p. 497, doi. 10.1080/13816810.2020.1799416

By:

Chertkof, Julia;
Hufnagel, Robert B.;
Blain, Delphine;
Gropman, Andrea L.;
Brooks, Brian P.

Publication type:

Article

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.

Published in:

PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161045

By:

Samango-Sprouse, Carole;
Kırkızlar, Eser;
Hall, Megan P.;
Lawson, Patrick;
Demko, Zachary;
Zneimer, Susan M.;
Curnow, Kirsten J.;
Gross, Susan;
Gropman, Andrea

Publication type:

Article

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Published in:

2019

By:

Posset, Roland;
Gropman, Andrea L.;
Nagamani, Sandesh C. S.;
Burrage, Lindsay C.;
Bedoyan, Jirair K.;
Wong, Derek;
Berry, Gerard T.;
Baumgartner, Matthias R.;
Yudkoff, Marc;
Zielonka, Matthias;
Hoffmann, Georg F.;
Burgard, Peter;
Schulze, Andreas;
McCandless, Shawn E.;
Garcia‐Cazorla, Angeles;
Seminara, Jennifer;
Garbade, Sven F.;
Kölker, Stefan;
Lee, Brendan;
Harding, Cary O.

Publication type:

journal article

Neurodevelopmental disorders and genetic testing: Current approaches and future advances.

Published in:

Annals of Neurology, 2013, v. 74, n. 2, p. 164, doi. 10.1002/ana.23950

By:

Sherr, Elliott H.;
Michelson, David J.;
Shevell, Michael I.;
Moeschler, John B.;
Gropman, Andrea L.;
Ashwal, Stephen

Publication type:

Article

Monitoring γ-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency.

Published in:

Annals of Neurology, 2004, v. 55, n. 4, p. 599

By:

Phillip L. Pearl;
Andrea Gropman

Publication type:

Article

Monitoring γ‐hydroxybutyric acid levels in succinate‐semialdehyde dehydrogenase deficiency.

Published in:

Annals of Neurology, 2004, v. 55, n. 4, p. 599

By:

Phillip L. Pearl;
Andrea Gropman

Publication type:

Article

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

Published in:

2021

By:

Sen, Kuntal;
Harrar, Dana;
Hahn, Andrea;
Wells, Elizabeth M.;
Gropman, Andrea L.

Publication type:

Case Study

Gen Benjamin O. Davis Jr.

Published in:

Air & Space Power Journal, 2004, v. 18, n. 3, p. 27

By:

Gropman, Alan

Publication type:

Article

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 4, p. 573, doi. 10.1007/s10545-016-9942-0

By:

Waisbren, Susan E.;
Gropman, Andrea L.;
Batshaw, Mark

Publication type:

Article