Infantile hypophosphatasia caused by compound heterozygous variants in the <i>ALPL</i> gene: a case report. [PDF]
Am J Transl ResWu Q +5 more
europepmc +1 more source
Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report. [PDF]
CureusNomura K +4 more
europepmc +1 more source
Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures. [PDF]
JCEM Case RepIm YJ +5 more
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ALPL-1 is a target for chimeric antigen receptor therapy in osteosarcoma
Osteosarcoma (OS) remains a dismal malignancy in children and young adults, with poor outcome for metastatic and recurrent disease. Immunotherapies in OS are not as promising as in some other cancer types due to intra-tumor heterogeneity and considerable off-target expression of the potentially targetable proteins.
Mensali, Nadia +7 more
openaire +1 more source
<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins. [PDF]
Hum MutatHao L +7 more
europepmc +1 more source
Biomarker-guided immunotherapy in osteosarcoma: from immune microenvironment profiling to patient stratification and combination strategies. [PDF]
Front Med (Lausanne)Li Q.
europepmc +1 more source
Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy. [PDF]
Front Endocrinol (Lausanne)Chung YS, Kim KK, S GB, Park JS.
europepmc +1 more source
Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. [PDF]
J Bone Miner ResDahir KM +5 more
europepmc +1 more source
Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital. [PDF]
Orphanet J Rare DisAlshahrani F +5 more
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