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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 ...
Agnes Linglart, Linglart Agnes
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 ...
Agnes Linglart, Linglart Agnes
exaly +3 more sources
Journal of the American Medical Association, 1958
1. A case of hypophosphatasia in a boy who sustained a fractured left femur is described. 2. The literature is reviewed, and the reported cases are found to fall into severe, moderately severe and mild forms. 3. The diagnostic features of the disease are the radiological picture, which resembles that of rickets, very low serum alkaline phosphatase ...
W, DICKSON, R H, HORROCKS
+6 more sources
1. A case of hypophosphatasia in a boy who sustained a fractured left femur is described. 2. The literature is reviewed, and the reported cases are found to fall into severe, moderately severe and mild forms. 3. The diagnostic features of the disease are the radiological picture, which resembles that of rickets, very low serum alkaline phosphatase ...
W, DICKSON, R H, HORROCKS
+6 more sources
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
openaire +2 more sources
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
openaire +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
openaire +2 more sources
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
openaire +2 more sources
The American Journal of Medicine, 1960
Abstract Two sisters are presented, now aged forty-one and forty-two, whom we think represent adult survivors of hypophosphatasia, a disease hitherto only described in children. Both sisters had had "rickets" in childhood, from which they had made a spontaneous recovery.
J E, BETHUNE, C E, DENT
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Abstract Two sisters are presented, now aged forty-one and forty-two, whom we think represent adult survivors of hypophosphatasia, a disease hitherto only described in children. Both sisters had had "rickets" in childhood, from which they had made a spontaneous recovery.
J E, BETHUNE, C E, DENT
openaire +2 more sources
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
openaire +2 more sources
Craniosynostosis and hypophosphatasia
Archives de Pédiatrie, 2017Hypophosphatasia (HPP) when diagnosed at a young age may induce premature fusion of one or several cranial sutures, resulting in a craniocerebral disproportion. The main forms of craniosynostosis associated with HPP are loss of the sagittal suture (scaphocephaly), alone or associated with loss of the coronal sutures (oxycephaly) or associated with loss
F, Di Rocco +4 more
openaire +2 more sources