CA Wagner, PHI Silva, S Bourgeois - Seminars in nephrology, 2019 - Elsevier
Acid-base balance is critical for normal life. Acute and chronic disturbances impact cellular energy metabolism, endocrine signaling, ion channel activity, neuronal activity, and …
J Bollerslev, PE Andersen Jr - Bone, 1988 - Elsevier
Review of the radiographs of 34 patients with autosomal dominant osteopetrosis revealed two distinct phenotypical types. Both were strictly family-related and exhibited progressive …
F Botrè, G Gros, BT Storey - 1991 - iris.uniroma1.it
Carbonic anhydrase: from biochemistry and genetics to physiology and clinical medicine IRIS IRIS Home Sfoglia Macrotipologie & tipologie Autore Titolo Riviste Serie IT Italiano Italiano …
D Batlle, H Ghanekar, S Jain… - Annual review of medicine, 2001 - annualreviews.org
▪ Abstract The primary or hereditary form of distal renal tubular acidosis (dRTA), although rare, has received increased attention recently because of dramatic advances in the …
Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that results in neurological manifestations due to restriction of growth of cranial foramina and …
GJ Schwartz, AM Kittelberger… - American Journal …, 2000 - journals.physiology.org
Carbonic anhydrase (CA) IV is a membrane-bound enzyme that catalyzes the dehydration of carbonic acid to CO2 and water. Using peptides from each end of the deduced rabbit CA IV …
C Letizia, A Taranta, S Migliaccio, C Caliumi… - Calcified tissue …, 2004 - Springer
A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the …
K Fujikawa-Adachi, I Nishimori, T Taguchi, S Onishi - Genomics, 1999 - Elsevier
A full-length cDNA clone of a human carbonic anhydrase XIV (HGMW-approved gene symbol CA14) was obtained and sequenced. The cDNA sequence was 1757 bp long and …
Bone resorption by osteoclasts occurs through the creation of a sealed extracellular compartment (ECC), or pit, adjacent to the bone that is subsequently acidified through a …