(Q43055107)

English

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

scientific article published in November 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

Michael P. Whyte

1

object named as

Michael P Whyte

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

William H. McAlister

3

object named as

William H McAlister

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

5

object named as

Steven Mumm

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

author name string

Lydia G Kempa

2

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

Fan Zhang

4

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

Deborah Wenkert

6

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

publication date

1 November 2010

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

Journal of Bone and Mineral Research

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

25

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

2515-2526

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

A clinical and molecular overview of the human osteopetroses

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Bisphosphonate-induced osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Evaluation of the Dade Behring Dimension RxL: integrated chemistry system-pediatric reference ranges

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Osteoprotegerin deficiency and juvenile Paget's disease.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Skeletal fluorosis and instant tea.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Skeletal fluorosis from instant tea.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Painful diffuse osteosclerosis after intravenous drug abuse

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

High-bone-mass disease and LRP5.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Lactate--a signal coordinating cell and systemic function

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Methods for the separation of lactate dehydrogenases and clinical significance of the enzyme

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Clinical biochemistry of lactate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Lactate dehydrogenase and cell injury

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Severely suppressed bone turnover: a potential complication of alendronate therapy

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.130

21 January 2018

Identifiers

10.1002/JBMR.130

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 November 2017

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