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Quoted phrase not found in phrase index: "Hyperparathyroidism, transient neonatal"
Page 1
The natural history and osteodystrophy of mucolipidosis types II and III.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. David-Vizcarra G, et al. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29. J Paediatr Child Health. 2010. PMID: 20367762 Free PMC article.
AIM: To assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML) II and III. METHODS: Affected children and adults were ascertained from clinical genetics units around Australia and New Zealand. ...Serum osteocalcin a …
AIM: To assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML) II and III. …
Adverse effects of drugs on the immature kidney.
Guignard JP, Gouyon JB. Guignard JP, et al. Biol Neonate. 1988;53(4):243-52. doi: 10.1159/000242797. Biol Neonate. 1988. PMID: 2901276 Review.
Indomethacin, a prostaglandin synthetase inhibitor used for the pharmacological closure of a patent ductus arteriosus, also increases renal vascular resistance, and decreases urine output. Furosemide, the drug most often used in oliguric neonates, may also adversely affect …
Indomethacin, a prostaglandin synthetase inhibitor used for the pharmacological closure of a patent ductus arteriosus, also increases renal …
Molecular and clinical analysis of a neonatal severe hyperparathyroidism case caused by a stop mutation in the calcium-sensing receptor extracellular domain representing in effect a human 'knockout'.
Ward DT, Mughal MZ, Ranieri M, Dvorak-Ewell MM, Valenti G, Riccardi D. Ward DT, et al. Eur J Endocrinol. 2013 Jun 1;169(1):K1-7. doi: 10.1530/EJE-13-0094. Print 2013 Jul. Eur J Endocrinol. 2013. PMID: 23612447
Although full Car deletion is possible in mice, most human CAR mutations result from a single amino acid substitution that maintains partial function. However, here, we report a case of neonatal severe hyperparathyroidism (NSHPT) in which the truncated CaR lacks any …
Although full Car deletion is possible in mice, most human CAR mutations result from a single amino acid substitution that maintains partial …
Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.
Sathasivam A, Garibaldi L, Murphy R, Ibrahim J. Sathasivam A, et al. J Pediatr Endocrinol Metab. 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859. J Pediatr Endocrinol Metab. 2006. PMID: 16886594
The phenotype of mucolipidosis type II (ML II), a disorder of lysosomal enzyme transport, includes mucopolysaccharidosis type I (Hurler syndrome)-like features and dysostosis multiplex, usually apparent after 6 months of age. We describe here the natural history of neonatal …
The phenotype of mucolipidosis type II (ML II), a disorder of lysosomal enzyme transport, includes mucopolysaccharidosis type I (Hurler synd …
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.
Tõke J, Czirják G, Patócs A, Enyedi B, Gergics P, Csákváry V, Enyedi P, Tóth M. Tõke J, et al. Clin Endocrinol (Oxf). 2007 Sep;67(3):385-92. doi: 10.1111/j.1365-2265.2007.02896.x. Epub 2007 Jun 7. Clin Endocrinol (Oxf). 2007. PMID: 17555508
INTRODUCTION: Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). ...The entire coding region of the CaSR gene of the patient and his family members was sequenced. Functional investigation was pe …
INTRODUCTION: Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing recept …
Transient neonatal hypoparathyroidism: report of four cases.
Tseng UF, Shu SG, Chen CH, Chi CS. Tseng UF, et al. Acta Paediatr Taiwan. 2001 Nov-Dec;42(6):359-62. Acta Paediatr Taiwan. 2001. PMID: 11811226
Neonatal hypocalcemia (NH) is common in the neonatal period. Its cause falls into one of two clinical categories, early NH occurs in first 24-48 hours of life; late NH is observed at the end of the first week of life. ...In this paper we report on four cases …
Neonatal hypocalcemia (NH) is common in the neonatal period. Its cause falls into one of two clinical categories, early NH occ …
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN. Bai M, et al. J Clin Invest. 1997 Apr 15;99(8):1917-25. doi: 10.1172/JCI119359. J Clin Invest. 1997. PMID: 9109436 Free PMC article.
In this report, we studied a mutant CASR with an Alu-repetitive element inserted at codon 876, which was identified in affected members of families with the hypercalcemic disorders, familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism ( …
In this report, we studied a mutant CASR with an Alu-repetitive element inserted at codon 876, which was identified in affected members of f …
Early postnatal dexamethasone therapy for the prevention of chronic lung disease in preterm infants with respiratory distress syndrome: a multicenter clinical trial.
Yeh TF, Lin YJ, Hsieh WS, Lin HC, Lin CH, Chen JY, Kao HA, Chien CH. Yeh TF, et al. Pediatrics. 1997 Oct;100(4):E3. doi: 10.1542/peds.100.4.e3. Pediatrics. 1997. PMID: 9310536 Clinical Trial.
Significantly more infants in the dexamethasone group than in the placebo group had either bacteremia or clinical sepsis (43/132 vs 27/130). Other immediate, but transient, side effects observed in the dexamethasone group are: an increase in blood glucose and blood …
Significantly more infants in the dexamethasone group than in the placebo group had either bacteremia or clinical sepsis (43/132 vs 27/130). …
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
Bai M, Pearce SH, Kifor O, Trivedi S, Stauffer UG, Thakker RV, Brown EM, Steinmann B. Bai M, et al. J Clin Invest. 1997 Jan 1;99(1):88-96. doi: 10.1172/JCI119137. J Clin Invest. 1997. PMID: 9011580 Free PMC article.
We characterized the in vivo, cellular and molecular pathophysiology of a case of neonatal hyperparathyroidism (NHPT) resulting from a de novo, heterozygous missense mutation in the gene for the extracellular Ca2+ (Ca2+(o))-sensing receptor (CaR). The female neon …
We characterized the in vivo, cellular and molecular pathophysiology of a case of neonatal hyperparathyroidism (NHPT) resultin …
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN. Pidasheva S, et al. Hum Mol Genet. 2005 Jun 15;14(12):1679-90. doi: 10.1093/hmg/ddi176. Epub 2005 May 6. Hum Mol Genet. 2005. PMID: 15879434
The inherited disorders, familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), are caused by inactivating mutations in the CASR gene. The CASR has an N-terminal, 19 amino acid signal peptide that is predicted to direct th …
The inherited disorders, familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), are cause …
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