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
- 7,533 views
- 20 citations
137 articles related to "Disease Type"
Articles
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
- 4,671 views
- 26 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
- 9,212 views
- 29 citations
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
- 14,239 views
- 12 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
- 4,728 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
- 5,058 views
- 6 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
- 6,100 views
- 7 citations
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
- 5,456 views
- 3 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
- 2,866 views
- 1 citation
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
- 4,475 views
- 7 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
- 6,618 views
- 4 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
- 2,498 views
- 4 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
- 3,689 views
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
- 4,217 views
- 10 citations
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
- 20,106 views
- 76 citations
Original Research
Published on 15 Oct 2021
Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C
in Cellular Neuropathology
Frontiers in Cellular Neuroscience
doi 10.3389/fncel.2021.757482
- 7,923 views
- 21 citations