Jaymin Upadhyay
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Explore the profile of Jaymin Upadhyay including associated specialties, affiliations and a list of published articles.
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62
Citations
1006
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Recent Articles
11.
Cao A, van Gool R, Golden E, Goodlett B, Camelo C, Bujoreanu S, et al.
Front Pain Res (Lausanne)
. 2023 Oct;
4:1244609.
PMID: 37841659
Pompe disease (PD) is a rare inherited metabolic disorder of deficient or absent acid alpha-glucosidase (GAA), resulting in defective lysosomal glycogen catabolism. Muscle weakness, respiratory deficiency and gastrointestinal symptoms are...
12.
Golden E, van der Heijden H, Ren B, Randall E, Drubach L, Shah N, et al.
J Clin Endocrinol Metab
. 2023 Oct;
109(3):771-782.
PMID: 37804088
Context: Pain is a poorly managed aspect in fibrous dysplasia/McCune-Albright syndrome (FD/MAS) because of uncertainties regarding the clinical, behavioral, and neurobiological underpinnings that contribute to pain in these patients. Objective:...
13.
Farid A, Golden E, Hu A, Robicheau S, Rutkove S, Al-Hertani W, et al.
Muscle Nerve
. 2023 Sep;
68(5):775-780.
PMID: 37682022
Introduction/aims: ADSSL1 myopathy (OMIM 617030) is a recently discovered, congenital myopathic disease caused by a pathogenic variant in ADSSL1. ADSSL1 is an enzyme involved in the purine nucleotide process and...
14.
Upadhyay J, Iwasaka-Neder J, Golden E, Bixby S
Pediatrics
. 2023 Jul;
152(2).
PMID: 37416976
Imaging modalities such as computed tomography (CT) are critical for monitoring musculoskeletal abnormalities in children with rare diseases. However, CT exposes patients to radiation, which limits its utility in the...
15.
Golden E, van Gool R, Cay M, Goodlett B, Cao A, Al-Hertani W, et al.
Orphanet J Rare Dis
. 2023 May;
18(1):120.
PMID: 37210540
Background: Niemann-Pick disease type C (NPC) is a rare inherited lysosomal storage disease typified by accumulation of cholesterol and other lipids in late endosomes/lysosomes, thereby resulting in a spectrum of...
16.
Tucker-Bartley A, Selen D, Golden E, van Gool R, Ebb D, Mannstadt M, et al.
Int J Mol Sci
. 2023 Feb;
24(3).
PMID: 36768871
Fibrous dysplasia (FD) is a rare, non-inherited bone disease occurring following a somatic gain-of-function R201 missense mutation of the ( gene. The spectrum of the disease ranges from a single...
17.
Farid A, Golden E, Robicheau S, Hu A, Cheung K, Yu P, et al.
Sci Rep
. 2022 Dec;
12(1):20908.
PMID: 36463382
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder involving skeletal dysplasia and heterotopic ossification (HO) of muscle and connective tissue. We aimed to define a novel biomarker in FOP that...
18.
Upadhyay J, Verrico C, Cay M, Kodele S, Yammine L, Koob G, et al.
Lancet Psychiatry
. 2022 Jul;
9(8):e37-e38.
PMID: 35843258
No abstract available.
19.
Lemme J, Tucker-Bartley A, Drubach L, Shah N, Romo L, Cay M, et al.
Front Med (Lausanne)
. 2022 Apr;
9:857079.
PMID: 35372387
Patients diagnosed with McCune-Albright Syndrome (MAS) frequently manifest craniofacial fibrous dysplasia (FD). Craniofacial FD can impinge nerve fibers causing visual loss as well as craniofacial pain. Surgical decompression of affected...
20.
Golden E, Zhang F, Selen D, Ebb D, Romo L, Drubach L, et al.
Front Neurol
. 2022 Apr;
13:855157.
PMID: 35370900
Patients with fibrous dysplasia (FD) often present with craniofacial lesions that affect the trigeminal nerve system. Debilitating pain, headache, and migraine are frequently experienced by FD patients with poor prognosis,...