(Q40507173)

21 September 2017

Acid-labile subunit deficiency and growth failure: description of two novel cases (English)

1 reference

21 September 2017

5

M O Savage

1 reference

21 September 2017

6

A J L Clark

1 reference

21 September 2017

Cecilia Camacho-Hübner

series ordinal

7

object named as

C Camacho-Hübner

1 reference

21 September 2017

4

L A Metherell

1 reference

21 September 2017

A David

1

1 reference

21 September 2017

S J Rose

series ordinal

2

1 reference

21 September 2017

F Miraki-Moud

series ordinal

3

1 reference

21 September 2017

14 April 2010

1 reference

21 September 2017

1 reference

21 September 2017

73

1 reference

21 September 2017

5

1 reference

21 September 2017

328-334

1 reference

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Diagnostic and therapeutic advances in growth hormone insensitivity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

British growth charts for height and weight with recommendations concerning their use in auxological assessment

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Insulin-like growth factor binding proteins in the human circulation: a review.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Variations in pattern of pubertal changes in girls

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Structure of the Mr 140,000 growth hormone-dependent insulin-like growth factor binding protein complex: determination by reconstitution and affinity-labeling

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Testicular volume during adolescence. Cross-sectional and longitudinal studies.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Insulin-like growth factors I and II in healthy man. Estimations of half-lives and production rates

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Circulating levels and molecular distribution of the acid-labile (alpha) subunit of the high molecular weight insulin-like growth factor-binding protein complex

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Short Stature Caused by a Biologically Inactive Mutant Growth Hormone (GH-C53S)

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868526

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations

2 December 2018

1 reference

12 December 2020

Primary Acid-Labile Subunit Deficiency due to RecessiveIGFALSMutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

1 reference

12 December 2020

Growth hormone insensitivity associated with a STAT5b mutation

1 reference

12 December 2020

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins

1 reference

12 December 2020

Identifiers

DOI

10.1159/000308164

1 reference

21 September 2017

1 reference

21 September 2017

PubMed publication ID

20389102

1 reference