Pages that link to "Q28264477"
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The following pages link to A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites (Q28264477):
Displaying 40 items.
- Hypophosphatasia (Q21202964) (← links)
- Pathophysiology of hypophosphatasia and the potential role of asfotase alfa (Q26747780) (← links)
- Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene (Q28140030) (← links)
- Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia (Q28656355) (← links)
- Enzyme replacement therapy for murine hypophosphatasia (Q34008808) (← links)
- Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy (Q34206205) (← links)
- Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia (Q34215637) (← links)
- Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia (Q36431644) (← links)
- Alkaline Phosphatase and Hypophosphatasia (Q36778063) (← links)
- Hereditary and familial syndromes of bone and blood. Genetic pathways, diagnostic pitfalls (Q36871123) (← links)
- Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis (Q37682966) (← links)
- Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures (Q38088196) (← links)
- Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia (Q38690138) (← links)
- Asfotase Alfa in Perinatal/Infantile-Onset and Juvenile-Onset Hypophosphatasia: A Guide to Its Use in the USA. (Q38718625) (← links)
- Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment (Q38740282) (← links)
- Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells (Q39985557) (← links)
- Recurrent Metatarsal Fractures in Postmenopausal Woman With Low Serum Alkaline Phosphatase: A Rare Diagnosis Not to Miss (Q40995186) (← links)
- Osteogenesis imperfecta and other heritable disorders of bone (Q41530960) (← links)
- Genetic analysis of hypophosphatasia (Q41605211) (← links)
- Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia (Q41853551) (← links)
- Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population (Q41969459) (← links)
- Hypophosphatasia - pathophysiology and treatment. (Q42008004) (← links)
- Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis (Q42051018) (← links)
- A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia (Q43880169) (← links)
- Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice. (Q47101719) (← links)
- Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia (Q48000046) (← links)
- Genetics of hypophosphatasia (Q50186671) (← links)
- Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges (Q51192993) (← links)
- Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. (Q53739961) (← links)
- A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred. (Q54414487) (← links)
- Brief Clinical Report: Hypophosphatasia-Diagnostic Considerations and Treatment Outcomes in an Infant. (Q55005227) (← links)
- Hypophosphatasie (Q56638466) (← links)
- G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family (Q73131971) (← links)
- Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family (Q73356675) (← links)
- Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients (Q74127905) (← links)
- Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation (Q83393080) (← links)
- A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population (Q83849140) (← links)
- Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy (Q90215423) (← links)
- Update on the management of hypophosphatasia (Q92627349) (← links)
- Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management (Q100992968) (← links)