Mutational Analysis and Functional Correlation With Phenotype in German Patients With Childhood-Type Hypophosphatasia [PDF]
Journal of Bone and Mineral Research, 2001 Abstract The tissue-nonspecific alkaline phosphatase (TNSALP) gene from five German family members with childhood-type hypophosphatasia (HOPS) was analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)-direct sequencing method.
H, Orimo +5 more
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Effectiveness and safety of asfotase alfa for people with hypophosphatasia: a plain language summary of three studies. [PDF]
J Comp Eff ResWhat is this summary about? Hypophosphatasia (HPP for short) is a rare inherited condition that can present at any stage of life, with symptoms typically being more severe in cases that manifest earlier, such as during infancy or childhood.
Jasmi FA, Belaya Z.
europepmc +2 more sources
Papillon Lefevre syndrome: bridge between Dermatologist and Dentist [PDF]
, 2010 Papillon-Lefevre syndrome is a rare autosomal recessively inherited condition which shows features common to both dentistry and dermatology. This disease is characterized by palmoplantar hyperkeratosis and severe periodon- titis.
Brar, Rajdeep +3 more
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Hypophosphatasia in children. Three faces of one disease [PDF]
РМЖ. Мать и дитя, 2020 S.A. Boykov1, I.Yu. Chernyak1, N.S. Shatokhina1, E.Yu. Gurkina2, N.A. Borodina3, E.F. Chelabova3, S.A. Epoeva3 1Children’s Regional City Hospital, Krasnodar, Russian Federation 2V.A. Almazov National Medical Research Center, St.
S.A. Boykov +6 more
doaj
Stem Cell Research & Therapy, 2021 Background Premature exfoliation of the deciduous teeth is a common manifestation in childhood patients with hypophosphatasia (HPP), which is an autosomal inherited disease caused by ALPL mutations.
Liqiang Zhang +5 more
doaj +1 more source
FGF2 promotes Msx2 stimulated PC‐1 expression via Frs2/MAPK signaling [PDF]
, 2010 PC‐1 is an enzymatic generator of pyrophosphate and a critical regulator of tissue mineralization. We previously showed that fibroblast growth factor‐2 (FGF2) specifically induces PC‐1 expression in calvarial pre‐osteoblasts and that this occurs via a ...
Hatch, Nan E. +4 more
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Analysis of the periodontal microbiota in childhood-type hypophosphatasia
International Journal of Medical Microbiology, 2006 Seven patients with childhood-type hypophosphatasia and healthy control subjects were analysed for microbiological and clinical evidence of periodontitis. The bacterial composition of the subgingival plaque was analysed by 16S rRNA gene cloning and sequencing, DNA-DNA hybridisation with specific probes, and specific PCR. With the exception of the genus
Giuseppe, Valenza +8 more
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Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment [PDF]
, 2010 Introduction: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory disorder of unknown etiology. In children and adolescents CNO predominantly affects the metaphyses of the long bones, but lesions can occur at any site of the skeleton ...
Christine Beck +8 more
core +1 more source
Clinical variability of hypophosphatasia in colombian patients : case reports [PDF]
, 2021 Q4Q4Pacientes con HipofosfatasiaHypophosphatasia (HPP) is a rare inherited disorder characterized by low serum alkaline phosphatase. It affects bone and tooth mineralization, although extra-skeletal manifestations are frequent.
Gonzáles López, Vladimir +5 more
core +1 more source
A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia [PDF]
, 2021 Abstract BackgroundHypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The phenotype of HPP is widely diverse from the perinatal severe form to the adult mild form.
Yohei Sugiyama +11 more
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