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[Ectopic calcifications in adult hypophosphatasia].
, 1983 The first case of hypophosphatasia in adults reported in Italy (20th in the world) is described with remarks on the epidemiology, pathogenesis and therapeutic possibilities.
N. Gentiloni +3 more
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, 2018 Perinatal hypophosphatasia is a rare and severe disease associated with a reduction in tissue non-specific alkaline phosphatase synthesis due to a deletion or a mutation of its gene located on chromosome 1.
Ríos Navarrete, Wendy
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Congenital Hypophosphatasia [PDF]
Proceedings of the Royal Society of Medicine, 1955 openaire +2 more sources
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1974 A, Meberg, T, Torstenson
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Current Osteoporosis Reports, 2016
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone ...
Agnès Linglart
exaly +3 more sources
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone ...
Agnès Linglart
exaly +3 more sources
Genetic Etiology and Dental Pulp Cell Deficiency of Hypophosphatasia
Journal of Dental Research, 2010 Hypophosphatasia is caused by mutations of the tissue-non-specific alkaline phosphatase ( TNSALP) gene with deficiency of dentin structure. The aim of this study was to examine whether TNSALP mutation in dental pulp cells contributes to dentin dysplasia
Tong Zhu
exaly +2 more sources
Acta Pathologica Japonica, 1982
An autopsy case of bypophosphatasia in lethal form in a fetus was reported. The female fetus of 40 gestational weeks was prenatally diagnosed as the specific type of congenital disease, because of no detection of calcification of whole bones by X‐ray examination.
S, Imai +4 more
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An autopsy case of bypophosphatasia in lethal form in a fetus was reported. The female fetus of 40 gestational weeks was prenatally diagnosed as the specific type of congenital disease, because of no detection of calcification of whole bones by X‐ray examination.
S, Imai +4 more
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Wiener Medizinische Wochenschrift, 2020
Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue non-specific alkaline phosphatase (TNSALP) gene, leading ...
Sebastian, Simon, Heinrich, Resch
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Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue non-specific alkaline phosphatase (TNSALP) gene, leading ...
Sebastian, Simon, Heinrich, Resch
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Hypophosphatasia with phenylketonuria
Zeitschrift f�r Kinderheilkunde, 1974Hypophosphatasia and phenylketonuria have been encountered in a 9-month-old male infant as two independent inborn errors of metabolism. The pathognomonic triad of bony demineralization, subnormal alkaline phosphatase levels and increased excretion of phosphoethanolamine established the diagnosis of hypophosphatasia.
M E, Blaskovics, K N, Shaw
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