Mini Review
Published on 19 Feb 2021
Liver Transplantation for Glycogen Storage Disease Type IV
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.633822
- 7,250 views
- 20 citations
132 articles related to "Disease Type"
Articles
Case Report
Published on 03 Dec 2020
Refractory Celiac Disease Type II: A Case Report and Literature Review
in Gastroenterology
Frontiers in Medicine
doi 10.3389/fmed.2020.564875
- 13,853 views
- 10 citations
Original Research
Published on 23 Nov 2022
Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1071464
- 4,441 views
- 25 citations
Original Research
Published on 15 Jan 2018
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
in Neuro-Ophthalmology
Frontiers in Neurology
doi 10.3389/fneur.2017.00711
- 8,981 views
- 29 citations
Original Research
Published on 27 Feb 2025
Eliglustat substrate reduction therapy in children with Gaucher disease type 1
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1543136
- 4,225 views
- 3 citations
Original Research
Published on 11 May 2023
Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2023.1163427
- 5,810 views
- 6 citations
Original Research
Published on 11 Aug 2022
Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.945280
- 4,817 views
- 6 citations
Case Report
Published on 14 Apr 2022
Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2022.794110
- 2,320 views
- 4 citations
Case Report
Published on 17 Jun 2022
Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.921323
- 6,355 views
- 4 citations
Case Report
Published on 11 Jun 2024
Case report: The success of empagliflozin therapy for glycogen storage disease type 1b
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2024.1365700
- 4,181 views
- 7 citations
Brief Research Report
Published on 22 Nov 2024
A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1495711
- 2,604 views
- 1 citation
Review
Published on 04 Apr 2018
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2018.00666
- 19,826 views
- 74 citations
Original Research
Published on 22 Jun 2017
Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher’s Disease Type 3
in Neuro-Ophthalmology
Frontiers in Neurology
doi 10.3389/fneur.2017.00295
- 4,017 views
- 10 citations
Original Research
Published on 14 Nov 2022
Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.999596
- 3,550 views
Review
Published on 12 Jun 2025
X-linked lymphoproliferative disease type 1: a clinical and genetic update
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1620327
- 4,722 views
- 2 citations
Case Report
Published on 02 Aug 2024
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1422908
- 3,336 views