Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
about
Molecular basis of human carbonic anhydrase II deficiencyCarbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcificationThe Erlenmeyer flask bone deformity in the skeletal dysplasiasAdministration of general anaesthesia to a paediatric patient with osteopetrosis.N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21Proximal renal tubular acidosis: a not so rare disorder of multiple etiologiesInherited renal acidoses.Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.Human chromosome 8.Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency.Insulin-induced formation of ruffling membranes of KB cells and its correlation with enhancement of amino acid transport.Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.Carbonic Anhydrase II Deficiency in a Saudi Woman.Marble brain disease in two Saudi Arabian siblings.Neuropathology and craniofacial lesions of osteopetrotic Red Angus calves.Genetic causes and mechanisms of distal renal tubular acidosis.The neurology of carbonic anhydrase type II deficiency syndrome.
P2860
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P2860
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
1980年论文
@zh
1980年论文
@zh-cn
name
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@en
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@nl
type
label
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@en
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@nl
prefLabel
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@en
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@nl
P2093
P1476
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.
@en
P2093
L V Avioli
M D Fallon
W A Murphy
W H McAlister
P356
10.1016/0002-9343(80)90501-X
P407
P577
1980-07-01T00:00:00Z