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Titolo:
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene
Autore:
Mochizuki, H; Saito, M; Michigami, T; Ohashi, H; Koda, N; Yamaguchi, S; Ozono, K;
Indirizzi:
Saitama Childrens Med Ctr, Div Endocrinol & Metab, Iwatsuki, Saitama 3398551, Japan Saitama Childrens Med Ctr Iwatsuki Saitama Japan 3398551 a 3398551, Japan Osaka Med Ctr, Dept Environm Med, Izumi, Osaka 5941101, Japan Osaka Med Ctr Izumi Osaka Japan 5941101 Med, Izumi, Osaka 5941101, Japan Res Inst Maternal & Child Hlth, Izumi, Osaka 5941101, Japan Res Inst Maternal & Child Hlth Izumi Osaka Japan 5941101 a 5941101, Japan Saitama Childrens Med Ctr, Div Med Genet, Iwatsuki, Saitama 3398551, JapanSaitama Childrens Med Ctr Iwatsuki Saitama Japan 3398551 a 3398551, Japan
Titolo Testata:
EUROPEAN JOURNAL OF PEDIATRICS
fascicolo: 5, volume: 159, anno: 2000,
pagine: 375 - 379
SICI:
0340-6199(200005)159:5<375:SHARIA>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
MISSENSE MUTATIONS; LOCALIZATION;
Keywords:
infantile hypophosphatasia; hypercalcaemia; respiratory insufficiency; alkaline phosphatase; TNSALP gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Mochizuki, H Saitama Childrens Med Ctr, Div Endocrinol & Metab, 2100 Magome, Iwatsuki, Saitama 3398551, Japan Saitama Childrens Med Ctr 2100 Magome Iwatsuki Saitama Japan 3398551
Citazione:
H. Mochizuki et al., "Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene", EUR J PED, 159(5), 2000, pp. 375-379

Abstract

We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild respiratory insufficiency. At theage of 2 months, severe hypercalcaemia, low levels of serum alkaline phosphatase activity, and elevated urinary excretion of calcium and phosphoethanolamine were noted. Radiological findings showed generalized osteopenia anddisturbed and irregular ossification of the metaphyses. Their involvement had spontaneously improved at the age of 6 months. A genetic study revealedthat the tissue-nonspecific alkaline phosphatase gene of the patient had two novel mutations, K207E and G409C, derived from the mother and father, respectively. A reconsitution experiment revealed that both mutant gene products had low but significant enzymatic activity. Conclusion The detection of tissue-nonspecific alkaline phosphatase gene mutations and expression studies to determine the enzymatic activity of mutant gene products was useful for assessing the clinical course of this patient with hypophosphatasia.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 15:12:35