Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: growth hormone; growth; hormone deficiency; deficiency type ... See more keywords
Vitamin D deficiency in type 1 narcolepsy: a reappraisal.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: type narcolepsy; patients nt1; deficiency type; deficiency ... See more keywords
Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: deficiency type; riboflavin transporter; electrodiagnostic findings; transporter deficiency ... See more keywords
Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1
Sign Up to like & getrecommendations! 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.… read more here.
Keywords: leukocyte adhesion; adhesion deficiency; adhesion; deficiency type ... See more keywords
Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder
Sign Up to like & getrecommendations! 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… read more here.
Keywords: adhesion; adhesion deficiency; primary immunodeficiency; deficiency type ... See more keywords
Impaired Treg-DC interactions contribute to autoimmunity in leukocyte adhesion deficiency type 1
Sign Up to like & getrecommendations! 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… read more here.
Keywords: treg; autoimmunity; leukocyte adhesion; deficiency type ... See more keywords
PREVALENCE OF VITAMIN D DEFICIENCY IN TYPE 1 DM A CONTROL CROSS SECTIONAL STUDY HELD IN MIDDLE AND WEST REGIONS OF SAUDI ARABIA.
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: deficiency type; control cross; saudi arabia; type control ... See more keywords