Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.

Item
http://www.wikidata.org/entity/Q43055107
A case of cavernous sinus thrombophlebitis and meningitis as a complication in osteopetrosisCamurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.Rapid skeletal turnover in a radiographic mimic of osteopetrosis.Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy.PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
P2860

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.

Item
http://www.wikidata.org/entity/Q43055107
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Elevated serum lactate dehydro ...... the sclerosing bone disorders.
@en
Elevated serum lactate dehydro ...... guish Albers-Schönberg disease
@nl
type
label
Elevated serum lactate dehydro ...... the sclerosing bone disorders.
@en
Elevated serum lactate dehydro ...... guish Albers-Schönberg disease
@nl
prefLabel
Elevated serum lactate dehydro ...... the sclerosing bone disorders.
@en
Elevated serum lactate dehydro ...... guish Albers-Schönberg disease
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
Elevated serum lactate dehydro ...... the sclerosing bone disorders.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698