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Published in 2017 at "Biochemical pharmacology"
DOI: 10.1016/j.bcp.2016.07.016
Abstract: Isolated growth hormone deficiency type II (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and short stature. It is mainly caused by autosomal dominant-negative mutations within the growth…
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Keywords:
growth hormone;
growth;
hormone deficiency;
deficiency type ... See more keywords
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1
Published in 2017 at "Sleep medicine"
DOI: 10.1016/j.sleep.2016.05.008
Abstract: OBJECTIVES Narcolepsy type 1 (NT1) is considered to be an immune-mediated disease in which environmental factors, such as vitamin D, might play a major role. The association between NT1 and vitamin D deficiency has previously…
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Keywords:
type narcolepsy;
patients nt1;
deficiency type;
deficiency ... See more keywords
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0
Published in 2022 at "Journal of clinical neuromuscular disease"
DOI: 10.1097/cnd.0000000000000390
Abstract: ABSTRACT We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She…
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Keywords:
deficiency type;
riboflavin transporter;
electrodiagnostic findings;
transporter deficiency ... See more keywords
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1
Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001221
Abstract: Background and Aim: Leukocyte adhesion deficiency type 1 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene. This gene encodes the CD18 subunit of &bgr;2 integrin leukocyte adhesion cell molecules.…
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Keywords:
leukocyte adhesion;
adhesion deficiency;
adhesion;
deficiency type ... See more keywords
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Published in 2017 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.12696
Abstract: Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive primary immunodeficiency disorder that is caused by mutations in ITGB2 gene encoding β2 subunit (CD18) of integrins1. Integrins are required for neutrophils adhesion to…
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Keywords:
adhesion;
adhesion deficiency;
primary immunodeficiency;
deficiency type ... See more keywords
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1
Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.162580
Abstract: Leukocyte adhesion deficiency type 1 (LAD-1) is a rare disease resulting from mutations in the gene encoding for the common β-chain of the β2-integrin family (CD18). The most prominent clinical symptoms are profound leukocytosis and…
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Keywords:
treg;
autoimmunity;
leukocyte adhesion;
deficiency type ... See more keywords
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Published in 2017 at "International Journal of Approximate Reasoning"
DOI: 10.21474/ijar01/3286
Abstract: Olfat Z. Sambas 1 , Ahmad Z. Makeen 2 , Ammar S. Yamani 2 , Alaa A. Alghamdi 2 and Rayan Z. Makeen 2 . 1. Pediatric Endocrinologist, Department of General Pediatric, Hera General Hospital,…
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Keywords:
deficiency type;
control cross;
saudi arabia;
type control ... See more keywords