Cementum and dentin in hypophosphatasia (2005)
Bos, T. Van Den, Handoko, G., Niehof, A., Ryan, L.M., Coburn, S.P., Whyte, M.P., ...
Cementum and dentin in hypophosphatasia (2005)
Bos, T. Van Den, Handoko, G., Niehof, A., Ryan, L.M., Coburn, S.P., Whyte, M.P., ...
Henthorn, P S, Raducha, M, Fedde, K N, Lafferty, M A, Whyte, M P
Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are inherited in an autosomal recessive fashion; the mode of transmission of...
Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, ...
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We...
Weiss, M J, Cole, D E, Ray, K, Whyte, M P, Lafferty, M A, Mulivor, R A, ...
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. Clinical...
Whyte, M P, Landt, M, Ryan, L M, Mulivor, R A, Henthorn, P S, Fedde, K N, ...
Hypophosphatasia features selective deficiency of activity of the tissue-nonspecific (liver/bone/kidney) alkaline phosphatase (ALP) isoenzyme (TNSALP); placental and intestinal ALP isoenzyme (PALP...
Thakker, R V, Davies, K E, Whyte, M P, Wooding, C, O'Riordan, J L
Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindreds. Affected individuals, who are males, suffer from infantile onset of...
Whyte, M P, Mahuren, J D, Fedde, K N, Cole, F S, McCabe, E R, Coburn, S P
"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of...
Sly, W S, Hewett-Emmett, D, Whyte, M P, Yu, Y S, Tashian, R E
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have...
Whyte, M P, Mahuren, J D, Vrabel, L A, Coburn, S P
Markedly increased circulating concentrations of pyridoxal-5'-phosphate (PLP) were found in each of 14 patients representing all clinical forms of hypophosphatasia, an inborn error characterized by...
Khosla, S, Hassoun, A A, Baker, B K, Liu, F, Zein, N N, Whyte, M P, ...
Hepatitis C-associated osteosclerosis (HCAO) is a rare disorder characterized by a marked increase in bone mass during adult life. Despite the rarity of HCAO, understanding the mediator(s) of the...
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
Lloyd, S E, Pannett, A A, Dixon, P H, Whyte, M P, Thakker, R V
Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to family C of the superfamily of G-protein coupled...
To clarify its physiologic role, alkaline phosphatase (ALP) was examined in normal skin fibroblasts and was shown to be the tissue-nonspecific (TNS) isoenzyme type (as evidenced by heat and...
Fedde, K N, Cole, D E, Whyte, M P
We explored the biochemical basis for the disorder pseudohypophosphatasia (PsHYPT) in one patient by examining the substrate specificity and localization of alkaline phosphatase (ALP) in cultured...
Henthorn, P S, Raducha, M, Fedde, K N, Lafferty, M A, Whyte, M P
Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are inherited in an autosomal recessive fashion; the mode of transmission of...
Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, ...
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We...
Weiss, M J, Cole, D E, Ray, K, Whyte, M P, Lafferty, M A, Mulivor, R A, ...
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. Clinical...
Whyte, M P, Landt, M, Ryan, L M, Mulivor, R A, Henthorn, P S, Fedde, K N, ...
Hypophosphatasia features selective deficiency of activity of the tissue-nonspecific (liver/bone/kidney) alkaline phosphatase (ALP) isoenzyme (TNSALP); placental and intestinal ALP isoenzyme (PALP...
Thakker, R V, Davies, K E, Whyte, M P, Wooding, C, O'Riordan, J L
Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindreds. Affected individuals, who are males, suffer from infantile onset of...
Whyte, M P, Mahuren, J D, Fedde, K N, Cole, F S, McCabe, E R, Coburn, S P
"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of...
Sly, W S, Hewett-Emmett, D, Whyte, M P, Yu, Y S, Tashian, R E
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have...
Whyte, M P, Mahuren, J D, Vrabel, L A, Coburn, S P
Markedly increased circulating concentrations of pyridoxal-5'-phosphate (PLP) were found in each of 14 patients representing all clinical forms of hypophosphatasia, an inborn error characterized by...
Khosla, S, Hassoun, A A, Baker, B K, Liu, F, Zein, N N, Whyte, M P, ...
Hepatitis C-associated osteosclerosis (HCAO) is a rare disorder characterized by a marked increase in bone mass during adult life. Despite the rarity of HCAO, understanding the mediator(s) of the...
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
Lloyd, S E, Pannett, A A, Dixon, P H, Whyte, M P, Thakker, R V
Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to family C of the superfamily of G-protein coupled...
To clarify its physiologic role, alkaline phosphatase (ALP) was examined in normal skin fibroblasts and was shown to be the tissue-nonspecific (TNS) isoenzyme type (as evidenced by heat and...
Fedde, K N, Cole, D E, Whyte, M P
We explored the biochemical basis for the disorder pseudohypophosphatasia (PsHYPT) in one patient by examining the substrate specificity and localization of alkaline phosphatase (ALP) in cultured...
Mumm, S, Whyte, M P, Thakker, R V, Buetow, K H, Schlessinger, D
Two kindreds residing in eastern Missouri and exhibiting X-linked recessive idiopathic hypoparathyroidism have been described. Genealogical records extending back five generations revealed no common...
Weiss, M J, Ray, K, Fallon, M D, Whyte, M P, Fedde, K N, Lafferty, M A, ...
Hypophosphatasia is a heritable disorder characterized by defective bone mineralization and a deficiency of liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity in serum and tissues. Severe...
Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals.
Anderson, H. C., Hsu, H. H., Morris, D. C., Fedde, K. N., Whyte, M. P.
Hypophosphatasia, a heritable disease characterized by deficient activity of the tissue nonspecific isoenzyme of alkaline phosphatase (TNSALP), results in rickets and osteomalacia. Although...
Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance.
Spotila, L. D., Caminis, J., Devoto, M., Shimoya, K., Sereda, L., Ott, J., ...
BACKGROUND: The genetic factors involved in determining bone mineral density (BMD) have not been fully elucidated. We have begun genetic linkage analysis of seven families in which many members are...
Bridging markers defining the map position of X linked hypophosphataemic rickets.
Thakker, R V, Read, A P, Davies, K E, Whyte, M P, Weksberg, R, Glorieux, F, ...
Hypophosphataemic rickets is commonly an X linked dominant hereditary disorder associated with a renal tubular defect in phosphate transport and bone deformities. The gene causing this disorder has...
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Trump, D, Dixon, P H, Mumm, S, Wooding, C, Davies, K E, Schlessinger, D, ...
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and...