Huggins E - Search Results

1

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, Högler W. Farman MR, et al. Among authors: huggins e. Bone. 2024 Jan;178:116947. doi: 10.1016/j.bone.2023.116947. Epub 2023 Oct 26. Bone. 2024. PMID: 37898381 Free article.

2

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.

Huggins E, Ong R, Rockman-Greenberg C, Flueckinger LB, Dahir KM, Kishnani PS. Huggins E, et al. Mol Genet Metab Rep. 2020 Oct 21;25:100661. doi: 10.1016/j.ymgmr.2020.100661. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33101980 Free PMC article.

3

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.

Stiles AR, Huggins E, Fierro L, Jung SH, Balwani M, Kishnani PS. Stiles AR, et al. Among authors: huggins e. Mol Genet Metab Rep. 2021 Feb 8;27:100729. doi: 10.1016/j.ymgmr.2021.100729. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33614410 Free PMC article.

4

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Huggins E, Holland M, Case LE, Blount J, Landstrom AP, Jones HN, Kishnani PS. Huggins E, et al. Mol Genet Metab. 2022 Mar;135(3):179-185. doi: 10.1016/j.ymgme.2022.01.003. Epub 2022 Jan 23. Mol Genet Metab. 2022. PMID: 35123877

5

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Goomber S, Huggins E, Rehder CW, Cohen JL, Bali DS, Kishnani PS. Goomber S, et al. Among authors: huggins e. Front Genet. 2022 Sep 30;13:1001154. doi: 10.3389/fgene.2022.1001154. eCollection 2022. Front Genet. 2022. PMID: 36246652 Free PMC article.

6

Glucosylsphingosine (Lyso-Gb₁): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

Gayed MM, Jung SH, Huggins E, Rodriguez-Rassi E, DeArmey S, Kishnani PS, Stiles AR. Gayed MM, et al. Among authors: huggins e. Int J Mol Sci. 2022 Nov 29;23(23):14938. doi: 10.3390/ijms232314938. Int J Mol Sci. 2022. PMID: 36499264 Free PMC article.

7

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.

Jackson DG, Case LE, Huggins E, Holland M, Blount J, Webb LH, Kishnani PS. Jackson DG, et al. Among authors: huggins e. Mol Genet Metab Rep. 2023 Jul 5;36:100989. doi: 10.1016/j.ymgmr.2023.100989. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670900 Free PMC article.

8

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Huggins E, Jackson DG, Young SP, Kishnani PS. Huggins E, et al. Mol Genet Metab Rep. 2024 Jul 9;40:101117. doi: 10.1016/j.ymgmr.2024.101117. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39101156 Free PMC article.

9

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Beaman MM, et al. Among authors: huggins e. Am J Med Genet A. 2025 Feb;197(2):e63880. doi: 10.1002/ajmg.a.63880. Epub 2024 Oct 4. Am J Med Genet A. 2025. PMID: 39364610

10

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.

Wang JS, Koch RL, Kenney-Jung D, Huggins E, Sodhi SS, Landstrom AP, Grewal DS, Kishnani PS. Wang JS, et al. Among authors: huggins e. JIMD Rep. 2024 Aug 15;65(5):313-322. doi: 10.1002/jmd2.12440. eCollection 2024 Sep. JIMD Rep. 2024. PMID: 39544691 Free PMC article.

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