J Daniel Sharer
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Explore the profile of J Daniel Sharer including associated specialties, affiliations and a list of published articles.
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18
Citations
278
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Recent Articles
1.
Sharer J, Huang R, Wood T, Huffman P, Yan Y, Zimmerman C, et al.
Curr Protoc
. 2024 Nov;
4(11):e70055.
PMID: 39575507
Oligosaccharidoses are a group of lysosomal storage disorders characterized by abnormal storage and excretion of incompletely processed glycan structures. As with other inherited metabolic disorders, early diagnosis and initiation of...
2.
Zimmerman C, Sharer J
Curr Protoc Hum Genet
. 2019 Jun;
102(1):e85.
PMID: 31216113
Carnitine is an essential molecule for mitochondrial beta-oxidation of long-chain fatty acids and other cellular functions. Several rare, inherited disorders of carnitine metabolism occur in humans, and secondary carnitine deficiency...
3.
Sharer J, De Biase I, Matern D, Young S, Bennett M, Tolun A
Genet Med
. 2018 Nov;
20(12):1499-1507.
PMID: 30459394
Amino acid abnormalities are observed in a broad spectrum of inherited metabolic diseases, such as disorders of amino acid metabolism and transport, organic acidemias, and ureagenesis defects. Comprehensive analysis of...
4.
Moore J, Sharer J
Curr Protoc Hum Genet
. 2017 Apr;
93:A.3O.1-A.3O.7.
PMID: 28384398
Reliable measurement of creatinine is necessary to assess kidney function, and also to quantitate drug levels and diagnostic compounds in urine samples. The most commonly used methods are based on...
5.
Sharer J, Bodamer O, Longo N, Tortorelli S, Wamelink M, Young S
Genet Med
. 2017 Jan;
19(2):256-263.
PMID: 28055022
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and...
6.
Yuan L, Sharer J
Curr Protoc Hum Genet
. 2016 Apr;
89:17.21.1-17.21.10.
PMID: 27037487
Homocysteine is a nonessential, sulfur-containing amino acid involved in one-carbon (folate) metabolism. A number of inherited and acquired conditions cause increased accumulation of this metabolite in blood (homocysteinemia) and other...
7.
Sharer J
Curr Protoc Hum Genet
. 2016 Apr;
89:17.1.1-17.1.16.
PMID: 27037486
Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases makes them a significant source of morbidity and...
8.
Prasain J, Arabshahi A, Taub P, Sweeney S, Moore R, Sharer J, et al.
J Chromatogr B Analyt Technol Biomed Life Sci
. 2013 Jan;
913-914:161-8.
PMID: 23314354
A specific and sensitive LC-MS/MS method for analysis of F(2)-isoprostanes (F(2)-IsoPs) and prostaglandins (PGs) in urine was developed and validated to examine the levels of F(2)-IsoPs and prostaglandin F(2α) (PGF(2α)),...
9.
Sharer J, Korf B
Curr Protoc Hum Genet
. 2012 Apr;
Chapter 17:Unit 17.0.1.
PMID: 22470143
No abstract available.
10.
Sharer J
Curr Protoc Hum Genet
. 2011 Jul;
Chapter 17:Unit17.1.
PMID: 21735377
Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases is likely greater than 1:3000 live births. These...