Gerald S Lipshutz
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Explore the profile of Gerald S Lipshutz including associated specialties, affiliations and a list of published articles.
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70
Citations
824
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Recent Articles
1.
Diep T, Zhou W, Reyes R, Nitzahn M, Day I, Makris G, et al.
Mol Ther Nucleic Acids
. 2025 Mar;
36(1):102470.
PMID: 40083646
Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea-cycle disorder, results in hyperammonemia initiating a sequence of adverse events that can lead to coma and death if not treated rapidly. There...
2.
Day I, Tamboline M, Lueptow L, Zhuravka I, Diep T, Tkachyova I, et al.
Sci Rep
. 2025 Mar;
15(1):7280.
PMID: 40025148
Pathogenic variants in the creatine transporter gene SLC6A8, reported to represent 2% of all intellectual disabilities in males, result in a spectrum of behavioral abnormalities including developmental delay, intellectual disability,...
3.
Day I, Tamboline M, Lipshutz G, Xu S
Mol Ther
. 2025 Jan;
PMID: 39741403
Gene therapy achieves therapeutic benefits by delivering genetic materials, packaged within a delivery vehicle, to target cells with defective genes. This approach has shown promise in treating various conditions, including...
4.
Nasseri Moghaddam Z, Reinhardt E, Thurm A, Potter B, Smith M, Graham C, et al.
medRxiv
. 2024 Oct;
PMID: 39371127
Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency. Patients commonly exhibit intellectual and developmental disabilities, often accompanied by...
5.
Bricker-Anthony R, Koeberl D, Lipshutz G, Perna F
Mol Ther
. 2024 Aug;
32(9):2801-2802.
PMID: 39178850
No abstract available.
6.
Lum E, Pirzadeh A, Datta N, Lipshutz G, McGonigle A, Hamiduzzaman A, et al.
Kidney Med
. 2024 Jul;
6(7):100843.
PMID: 38947773
Rationale & Objective: The option for A2/A2B deceased donor kidney transplantation was integrated into the kidney allocation system in 2014 to improve access for B blood group waitlist candidates. Despite...
7.
Koeberl D, Schulze A, Sondheimer N, Lipshutz G, Geberhiwot T, Li L, et al.
Nature
. 2024 Jun;
630(8017):E13.
PMID: 38844679
No abstract available.
8.
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
Koeberl D, Schulze A, Sondheimer N, Lipshutz G, Geberhiwot T, Li L, et al.
Nature
. 2024 Apr;
629(8011):E10.
PMID: 38649490
No abstract available.
9.
Koeberl D, Schulze A, Sondheimer N, Lipshutz G, Geberhiwot T, Li L, et al.
Nature
. 2024 Apr;
628(8009):872-877.
PMID: 38570682
Propionic acidaemia is a rare disorder caused by defects in the propionyl-coenzyme A carboxylase α or β (PCCA or PCCB) subunits that leads to an accumulation of toxic metabolites and...
10.
Meera P, Uusi-Oukari M, Lipshutz G, Wallner M
Front Pharmacol
. 2023 Dec;
14:1271203.
PMID: 38155909
Dementia and autoimmune diseases are prevalent conditions with limited treatment options. Taurine and homotaurine (HT) are naturally occurring sulfonate amino acids, with taurine being highly abundant in animal tissues, but...