Sandesh C S Nagamani
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Explore the profile of Sandesh C S Nagamani including associated specialties, affiliations and a list of published articles.
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66
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1381
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Recent Articles
1.
Folkestad L, Prakash S, Nagamani S, Andersen N, Carter E, Hald J, et al.
J Bone Miner Res
. 2024 Dec;
40(2):211-221.
PMID: 39665364
Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but...
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.
Chanvanichtrakool M, Schreiber J, Chen W, Barber J, Zhang A, Mew N, et al.
Pediatr Neurol
. 2024 Aug;
159:48-55.
PMID: 39121557
Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA)...
4.
Hald J, Langdahl B, Folkestad L, Wekre L, Johnson R, Nagamani S, et al.
Calcif Tissue Int
. 2024 Jun;
115(6):863-872.
PMID: 38836890
Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of...
5.
Busse E, Lee B, Nagamani S
Curr Osteoporos Rep
. 2024 Apr;
22(3):308-317.
PMID: 38600318
Purpose Of Review: The purpose of this review is to outline the principles of clinical genetic testing and to provide practical guidance to clinicians in navigating genetic testing for patients...
6.
Vuocolo B, German R, Lalani S, Murali C, Bacino C, Baskin S, et al.
Genet Med
. 2024 Mar;
26(6):101102.
PMID: 38431799
Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing....
7.
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...
8.
Posset R, Garbade S, Gleich F, Scharre S, Okun J, Gropman A, et al.
Genet Med
. 2023 Dec;
26(4):101039.
PMID: 38054409
Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events. However, there is a paucity of systematic...
9.
Glinton K, Minard C, Liu N, Sun Q, Elsea S, Burrage L, et al.
Mol Genet Metab
. 2023 Sep;
140(3):107699.
PMID: 37717413
Medications that elicit an alternate pathway for nitrogen excretion such as oral sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB) and intravenous sodium phenylacetate (NaPAA) are important for the management of...
10.
Murali C, Barber J, McCarter R, Zhang A, Gallant N, Simpson K, et al.
Mol Genet Metab
. 2023 Sep;
140(3):107696.
PMID: 37690181
Purpose: Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no...