Andrea L Gropman
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Explore the profile of Andrea L Gropman including associated specialties, affiliations and a list of published articles.
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109
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1846
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Recent Articles
1.
Ivaniuk A, Anselm I, Bowen A, Cohen B, Eminoglu F, Estrella J, et al.
Neurology
. 2025 Jan;
104(4):e209779.
PMID: 39883904
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders....
2.
Zielonka M, Kolker S, Garbade S, Gleich F, Nagamani S, Gropman A, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108566.
PMID: 39299137
Objective: In individuals with urea cycle disorders (UCDs) and neonatal disease onset, extracorporeal detoxification by continuous kidney replacement therapy is considered the therapeutic method of choice in addition to metabolic...
3.
Patel R, Park A, Marchi E, Gropman A, Whitehead M, Lyon G
Am J Med Genet A
. 2024 Jul;
194(12):e63821.
PMID: 39012200
NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the...
4.
Patel R, Makwana R, Christ C, Marchi E, Ung N, Harpell R, et al.
medRxiv
. 2024 Jul;
PMID: 38978667
Background: -related (Ogden Syndrome) and -related neurodevelopmental syndromes present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. While there is much...
5.
Sen K, Izem R, Long Y, Jiang J, Konczal L, McCarter R, et al.
Mol Genet Genomic Med
. 2024 Apr;
12(4):e2443.
PMID: 38634223
Background: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD...
6.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco M, Elsea S, Garcia-Cazorla A, et al.
Mol Genet Metab
. 2024 Mar;
142(1):108363.
PMID: 38452608
Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1. Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA)...
7.
Patel R, Park A, Marchi E, Gropman A, Whitehead M, Lyon G
medRxiv
. 2024 Feb;
PMID: 38352572
-related and -related neurodevelopmental syndrome, otherwise known as Ogden Syndrome, is known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor...
8.
Uittenbogaard M, Gropman A, Whitehead M, Brantner C, Gropman E, Chiaramello A
Int J Mol Sci
. 2024 Feb;
25(3).
PMID: 38338665
We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental insufficiency. His clinical manifestations...
9.
Posset R, Garbade S, Gleich F, Nagamani S, Gropman A, Epp F, et al.
Mol Genet Metab
. 2024 Feb;
141(3):108112.
PMID: 38301530
Objective: Liver transplantation (LTx) is an intervention when medical management is not sufficiently preventing individuals with urea cycle disorders (UCDs) from the occurrence of hyperammonemic events. Supplementation with L-citrulline/arginine is...
10.
Gropman A, Uittenbogaard M, Chiaramello A
Neurotherapeutics
. 2024 Jan;
21(1):e00311.
PMID: 38266483
Mitochondrial disorders are a group of rare and heterogeneous genetic diseases characterized by dysfunctional mitochondria leading to deficient adenosine triphosphate synthesis and chronic energy deficit in patients. The majority of...