Results 1 to 10 of about 1,777 (209)

Childhood hypophosphatasia: to treat or not to treat. [PDF]

Orphanet J Rare Dis, 2018
Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting within the first six months of life, excepting the
Rush ET.
europepmc   +6 more sources

Hypophosphatasia in childhood: Diagnosis to management. [PDF]

Osteoporos Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). HPP is diagnosed based on a combination of clinical features, laboratory findings, radiographic findings, and DNA analysis identifying a pathogenic ...
Im M, Cho SY.
europepmc   +4 more sources

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia. [PDF]

Ital J Pediatr
Abstract Background Hypophosphatasia (HPP) is a rare inherited disorder characterized by a deficiency of tissue-non-specific alkaline phosphatase (TNSALP) due to loss-of-function variants of the ALPL gene. HPP is characterized by an extremely variable age of onset and clinical presentation, largely depending on the ...
d'Angelo DM, Lauriola F, Silvestrini L, Cinque L, Castori M, Di Donato G, Di Ludovico A, La Bella S, Chiarelli F, Giannini C, Breda L.   +10 more
europepmc   +5 more sources

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface. [PDF]

Int J Mol Sci, 2022
The goal of this study was to perform a clinical and molecular investigation in an eight-year-old female child diagnosed with hypophosphatasia (HPP). The proband and her family were evaluated by medical and dental histories, biochemical analyses, radiographic imaging, and genetic analysis of the tissue-nonspecific alkaline phosphatase (ALPL) gene.
Martins L, Lessa LGF, Ali TM, Lazar M, Kim CA, Kantovitz KR, Santamaria MP, Araújo CF, Ramos CJ, Foster BL, Franco JFS, Bertola D, Nociti FH.   +12 more
europepmc   +3 more sources

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene. [PDF]

Clin Pediatr Endocrinol, 2023
Hypophosphatasia (HPP) is caused by inactivating variants of the ALPL gene, which encodes tissue non-specific alkaline phosphatase (TNSALP). Among the six subtypes of HPP, childhood HPP presents after 6 months and before 18 yr of age, and is inherited in both autosomal dominant and autosomal recessive manners.
Tachikawa K, Yamazaki M, Michigami T.
europepmc   +3 more sources

<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins. [PDF]

Hum Mutat
Background and Aims Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by ALPL gene mutations, resulting in deficient tissue‐nonspecific alkaline phosphatase (ALP) activity. We investigated genotype–phenotype correlations in a monozygotic female twin pair with infantile HPP.
Hao L, Huang N, Tao Y, Li H, Zhuang J, Li X, Hao Z, Zhao F.   +7 more
europepmc   +2 more sources

SUN-LB089 Mild Form of Childhood Hypophosphatasia: A Novel Mutation

J Endocr Soc, 2019
Introduction: Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder, caused by loss-of-function mutations within the gene that encodes the tissue nonspecific alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP natural substrates leads to inhibition of teeth and bone mineralization.
Benzrihen M, D'Amato S, Moratto E, Rodríguez P, Forclaz M.   +4 more
europepmc   +2 more sources

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report [PDF]

Clin Case Rep
ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Parviz S, Hooshyar D.
europepmc   +2 more sources

MON-496 Bone Mineral Density improvement with Vitamin Dsupplementation in a Case Of Childhood Hypophosphatasia

J Endocr Soc, 2019
Hypophosphatasia is associated with defective mineralization of bone with possible teeth involvement with low activity of serum and bone alkaline phosphatase. It is caused by a mutations in the TNSALP gene. It is usually life-threatening when it presents within the first six months of life.
Babar G.
europepmc   +2 more sources

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source