Disease: Hanhart syndrome
- 2 cases of type II tyrosinosis (Richner-Hanhart syndrome)
- 4 cases of Richner-Hanhart syndrome (tyrosinemia type II) with neurological symptomatology in a Yugoslav family
- A case of Hanhart's syndrome
- A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations
- A child with dendritiform eye lesions and developmental delay
- A Rare Case of Hanhart Syndrome with Mild Developmental Delay
- An evaluation of the effects of acute and chronic L-tyrosine administration on BDNF levels and BDNF mRNA expression in the rat brain
- Anaesthetic and airway management in a child with Hanhart's syndrome
- Assignment of the human tyrosine aminotransferase gene to chromosome 16
- Bilateral anterior uveitis as a part of a multisystem inflammatory syndrome secondary to COVID-19 infection
- Bone distraction using an external fixator: a new mandibular lengthening technic. A preliminary study apropos of 2 cases of children with mandibular hypoplasia
- Brain hypoperfusion revealed by an ocular ischemic syndrome
- Central serous chorioretinopathy following the BNT162b2 mRNA vaccine
- Changes in the keratinocytes in oculo-cutaneous tyrosinosis: Richner-Hanhart syndrome (author's transl)
- Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations
- Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II)
- Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II
- Complete and isolated congenital aglossia: case report and treatment of sequelae using rapid prototyping models
- Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984)
- Conjunctivitis
- Conjunctivitis
- Corneal lesion as the initial manifestation of tyrosinemia type II
- CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years
- Dietetic therapy of Richner-Hanhart syndrome
- Effect of acute administration of L-tyrosine on oxidative stress parameters in brain of young rats
- Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach
- Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies
- Familial Richner-Hanhart syndrome: Report of a sibling with incomplete presentation
- Fetal oromandibular limb hypogenesis syndrome following uterine curettage in early pregnancy
- Further support for first-trimester disruption causing the oromandibular-limb hypogenesis spectrum of anomalies
- Hanhart syndrome
- Hanhart syndrome (aglossia-adactylia syndrome). Report of 2 cases
- Hanhart syndrome: hypoglossia-hypodactylia syndrome
- Hanhart syndrome: possibility of autosomal recessive inheritance
- Hanhart's syndrome
- Hanhart's syndrome with facial asymmetry: case report
- Hanhart's syndrome with special reference to temporal bone findings
- Hepatic enzymes of tyrosine metabolism in tyrosinemia II
- Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus
- Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)
- Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome
- Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss
- Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?
- Ichthyoses and hyperkeratotic disorders
- Increased frequency of severe major anomalies in children conceived by intracytoplasmic sperm injection
- Intraoperative oxygen desaturation and electrocardiographic changes in a patient with Hanhart syndrome
- Johann Friedrich Meckel the Younger (1781-1833) and modern teratology
- Limb deficiency and splenogonadal fusion
- Modification of mandibular advancement osteotomy in a patient with Hanhart syndrome
- Neonatal trismus
- Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome
- Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II
- Oculo-cutaneous tyrosinosis (Richner-Hanhart syndrome). Histo-pathological study of a case
- Oculocutaneous type II tyrosinosis
- Oromandibular limb hypogenesis complex (Hanhart syndrome): a severe adult phenotype
- Oromandibular limb hypogenesis/Hanhart's syndrome: possible drug influence on the malformation
- Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band
- Orthodontic treatment of mandibular incisor agenesis with Herbst appliance in a patient with Hanhart syndrome: A 12-year follow-up
- Painful keratoderma and photophobia: hallmarks of tyrosinemia type II
- Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome)
- Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II
- Pseudodendritic keratitis and systemic tyrosinemia
- Regression and disappearance of clinical symptoms in some cases of genodermatoses
- Richner Hanhart syndrome
- Richner-Hanhart syndrome
- Richner-Hanhart syndrome (oculocutaneous tyrosinaemia, tyrosinaemia type II)
- Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement)
- Richner-Hanhart syndrome (tyrosinemia II)
- Richner-Hanhart syndrome (tyrosinemia II): early diagnosis of an incomplete presentation with unusual findings
- Richner-Hanhart syndrome (tyrosinemia type II)
- Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion
- Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review
- Richner-Hanhart syndrome and tyrosinemia type II
- Richner-Hanhart syndrome detected by expanded newborn screening
- Richner-Hanhart syndrome spares a plantar autograft
- Richner-Hanhart syndrome: importance of early diagnosis and early intervention
- Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase
- Richner-Hanhart's syndrome: new ultrastructural observations on skin lesions of two cases
- Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels
- Richner-Hanhart's syndrome. Electron microscopic study of the skin lesion
- Splenogonadal fusion limb defect syndrome: report of five new cases and review
- Splenogonadal fusion-limb defect "syndrome" and associated malformations
- TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping
- Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate
- The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: a morphological ultrastructural study of the cornea and the conjunctiva
- The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22----q24) by somatic cell hybrid analysis and in situ hybridization
- The very rare aglossia adactylia syndrome with a novel finding of mental retardation
- Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood
- Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)
- Type II oculo-cutaneous tyrosinosis or Richner-Hanhart syndrome--apropos of a case
- Tyrosinaemia II
- Tyrosinaemia type II (Richner-Hanhart syndrome)--report of two cases treated with etretinate
- Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation
- Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene
- Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome
- Tyrosinemia type II with incomplete Richner-Hanhart's syndrome
- Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
- Tyrosinemia type II. Case report
- Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II)
- Tyrosinosis with hepatolenticular degeneration (Wilson's disease)