Suspected meningeal infiltration in H syndrome: A case report.

Redox imbalance and NLRP3 activation: H syndrome mistaken for CAPS-a case report.

The lysosomal carrier SLC29A3 supports antibacterial signaling, and promotes autophagy by activating TRPML1 in murine dendritic cells.

A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.

New cases expand the genotype, phenotype and therapeutic landscape of H syndrome.

Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due to SLC29A3 mutations.

The lysosomal carrier SLC29A3 supports anti-bacterial signaling and promotes autophagy by activating TRPML1 in mouse dendritic cells.

'VACTERL-H in newborn: A rare case report'.

Profile of monogenic diabetes: a Pan-India study.

[Azygos continuation of the inferior vena cava associated with "H syndrome"].

H syndrome presenting with bilateral cheek enlargement and an SLC29A3 gene variant.

A case report on H syndrome among patients with diabetes mellitus.

FDG PET Scan in Cutaneous Rosai-Dorfman-Destombes Disease.

Sterile osteomyelitis: a cardinal sign of autoinflammation.

H syndrome with bilateral choroidal osteoma: Coincidence or association?

SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.

H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.

Rheumatological manifestations of H syndrome.

Cochlear implantation in syndromic patients: difficulties and lessons learnt.

Study of Akabane disease in an Iranian dairy herd: a re-emerging disease.

H Syndrome: Three New Cases from Morocco.

Avalanche burial pathophysiology - a unique combination of hypoxia, hypercapnia and hypothermia.

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Combination of four features of SLC29A3 spectrum disorder in a child: A case report.

Cases with the H syndrome presenting with skin and bone findings.

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study.

Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.

Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria.

Hyperactive TLR signaling: putting the "H" in H syndrome.

A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome.

Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling.

H syndrome treated with Tocilizumab: two case reports and literature review.

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.

H Syndrome Presenting with Sinus of Valsalva Aneurysm and Possible Founder Mutation (p.Arg134cys) in Indian Patients.

The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report.

OCT2 expression in histiocytoses.

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives.

A case report of H-syndrome from Baghdad Medical City treated with tocilizumab.

Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.

Rosai-Dorfman Disease between Proliferation and Neoplasia.

Unusual facial lesions in H syndrome.

Case report of H-syndrome with a review from a rheumatological perspective.

Histiocytosis-lymphadenopathy plus syndrome revealed by repeated secondary hemophagocytic lymphohistiocytosis.

H syndrome caused by a novel P324S mutation in SLC29A3 gene.

Review of the current literature on H syndrome treatment.

H Syndrome: Report of The First Case in African Ethnicity.

Effects of Carbon Dioxide and Temperature on the Oxygen-Hemoglobin Dissociation Curve of Human Blood: Implications for Avalanche Victims.

Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar.

H syndrome: A review of treatment options and a hypothesis of phenotypic variability.

Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.

Efficacy of tocilizumab in adult H syndrome: a promising therapeutic option.

'H-syndrome': a multisystem genetic disorder with cutaneous clues.

Mermaid syndrome associated with VACTERL-H syndrome.

H syndrome with low bone mineral density associated with hypovitaminosis D and low insulin-like growth factor 1.

Multimodality imaging of constrictive pericarditis in H syndrome.

H syndrome: A rare multisystem genodermatosis associated with a novel finding of retinal angioma.

Pseudo-Meigs' Syndrome in Tunisian H Syndrome Female Patient: First Case Reported.

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry.

Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.

Hyperpigmented plaques with hypertrichosis in a patient with diabetes mellitus.

Glomerular involvement in children with H syndrome.

Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease.

Effects of hypothermia, hypoxia, and hypercapnia on brain oxygenation and hemodynamic parameters during simulated avalanche burial: a porcine study.

H Syndrome retrospectively diagnosed: The importance of recognizing cutaneous signs.

Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.

H syndrome with a novel homozygous SLC29A3 mutation in two sisters.

H syndrome: A rare genodermatosis.

Monogenic diabetes: A single center experience from South India.

Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature.

H syndrome with a possibly new immunological phenotype.

Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect.

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.

Adult stem cell deficits drive Slc29a3 disorders in mice.

H syndrome - the first report in Malaysia.

H Syndrome - A Case Report.

H syndrome with possible new phenotypes.

A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.

Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran.

Skin-limited H syndrome in a Chinese man.

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis.

The H Syndrome: A Genodermatosis.

H syndrome: Clinical, histological and genetic investigation in Tunisian patients.

A Tale of H Syndrome with Typical Radiographic Findings.

The histopathology and phenotypic variability in H syndrome.

H Syndrome: A Case Report and Review of Literature.

Usefulness and Utility of NACO Regime in the Management of Sexually Transmitted Infections: A Pilot Study.

H Syndrome: A Rare Genodermatosis Imaged With 18F-FDG PET/CT.

H syndrome: 5 new cases from the United States with novel features and responses to therapy.

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

H syndrome with histological features of Langerhans cell histiocytosis.

Male fertility and skin diseases.

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.

[H syndrome: First reported paediatric case in Latin America].

Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association.

Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome: Corrigendum.

Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.

H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis.

Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.