Disease: Histiocytosis with joint contractures and sensorineural deafness
- A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
- A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
- A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome
- Accelerated coronary atherosclerosis and H syndrome
- An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis
- Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder
- Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
- Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness
- Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene
- Case of H. Gougerot's trisymptomatic syndrome
- Case report of H-syndrome with a review from a rheumatological perspective
- Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option
- Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review
- Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers
- Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness
- Glomerular involvement in children with H syndrome
- H syndrome - the first report in Malaysia
- H syndrome caused by a novel P324S mutation in SLC29A3 gene
- H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives
- H syndrome treated with Tocilizumab: two case reports and literature review
- H syndrome: 5 new cases from the United States with novel features and responses to therapy
- H syndrome: Clinical, histological and genetic investigation in Tunisian patients
- H Syndrome: Three New Cases from Morocco
- Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency
- Histiocytosis-lymphadenopathy plus syndrome revealed by repeated secondary hemophagocytic lymphohistiocytosis
- Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome
- Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria
- Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease
- Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin
- Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor
- Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling
- Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome
- OCT2 expression in histiocytoses
- Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue
- Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene
- Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome
- Pneumonia hospitalizations and mortality in children 3 - 24-month-old in Nigeria from 2013 to 2020: Impact of pneumococcal conjugate vaccine ten valent (PHiD-CV-10)
- Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report
- Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study
- Rosai-Dorfman disease: Diagnosis and therapeutic challenges
- SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA
- Skin-limited H syndrome in a Chinese man
- SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis
- The spectrum of radiological findings in H syndrome
- Therapeutic action of vitamin B6 in large doses on hemiconvulsion-hemiplegia (H.H.) syndromes and their sequelae
- Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome
- Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome