Jennifer Goldstein
Overview
Explore the profile of Jennifer Goldstein including associated specialties, affiliations and a list of published articles.
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30
Citations
755
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Recent Articles
1.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, et al.
Mol Genet Metab
. 2024 Oct;
143(3):108593.
PMID: 39426251
Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted...
2.
Machado Bressan Wilke M, Goldstein J, Groopman E, Mohan S, Waddell A, Fernandez R, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108572.
PMID: 39265286
Introduction: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially...
3.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, et al.
medRxiv
. 2024 Aug;
PMID: 39211849
Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted...
4.
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, et al.
Mol Genet Metab
. 2024 Mar;
142(1):108362.
PMID: 38452609
Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by GAMT and arginine-glycine amidinotransferase (AGAT), encoded...
5.
Mohan S, Mayers M, Weaver M, Baudet H, De Biase I, Goldstein J, et al.
Mol Genet Metab
. 2023 May;
139(3):107604.
PMID: 37236006
Peroxisomal disorders are heterogeneous in nature, with phenotypic overlap that is indistinguishable without molecular testing. Newborn screening and gene sequencing for a panel of genes implicated in peroxisomal diseases are...
6.
Thaxton C, Goldstein J, DiStefano M, Wallace K, Witmer P, Haendel M, et al.
Cell Genom
. 2022 Jun;
2(5).
PMID: 35754516
The dilemma of how to categorize and classify diseases has been debated for centuries. The field of medical genetics has historically approached nosology based on clinical phenotypes observed in patients...
7.
DiStefano M, Goehringer S, Babb L, Alkuraya F, Amberger J, Amin M, et al.
Genet Med
. 2022 May;
24(8):1732-1742.
PMID: 35507016
Purpose: Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence...
8.
Moyer E, Lehman E, Bolton M, Goldstein J, Pichardo-Lowden A
Sci Rep
. 2021 Jun;
11(1):11476.
PMID: 34075071
Stress hyperglycemia (SH) is a manifestation of altered glucose metabolism in acutely ill patients which worsens outcomes and may represent a risk factor for diabetes. Continuity of care can assess...
9.
10.
Doan H, Hu M, Goldstein J, Piha-Paul S, Subbiah V, Patel A
Cutis
. 2019 Jun;
103(5):E24-E29.
PMID: 31233590
Vandetanib is a once-daily oral multikinase inhibitor that targets the rearranged during transfection (RET) tyrosine kinase, vascular endothelial growth factor receptor, and epidermal growth factor receptor. Among its observed toxicity...