Search
Now showing items 1-10 of 44
Changing Etiological Trends In Male Precocious Puberty: Evaluation Of 100 Cases With Central Precocious Puberty Over The Last Decade
(Karger, 2015)
Background/ Aims: There are few studies in the literature that have evaluated the etiological factors in boys with central precocious puberty (CPP), and these studies are limited in terms of the sample size. In the present ...
Corticotropin Tests For Hypothalamic-Pituitary-Adrenal Insufficiency: A Metaanalysis
(Endocrine Soc, 2008)
Context: The diagnostic value of tests for detecting hypothalamic-pituitary adrenal insufficiency (HPAI) is controversial. Objective: Our objective was to compare standard-dose and low-dose corticotropin tests for diagnosing ...
Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring
(Academic Press Inc Elsevier Science, 2014)
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
Clinical And Biochemical Characteristics And Bone Mineral Density Of Homozygous, Compound Heterozygous And Heterozygous Carriers Of Three Novel Igfals Mutations
(Bioscientifica Ltd, 2017)
Objective: Acid-labile subunit (ALS) deficiency (ACLSD), caused by homozygous or compound heterozygous IGFALS mutations, is associated with moderate short stature, delayed puberty, low serum IGF-I and ALS and extremely low ...
Cobalamin C Disease Missed By Newborn Screening In A Patient With Low Carnitine Level
(Springer-Verlag Berlin, 2015)
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic ...
Mitochondrial Signaling Contributes To Disuse Muscle Atrophy
(Amer Physiological Soc, 2012)
Powers SK, Wiggs MP, Duarte JA, Zergeroglu AM, Demirel HA. Mitochondrial signaling contributes to disuse muscle atrophy. Am J Physiol Endocrinol Metab 303: E31-E39, 2012. First published March 6, 2012; doi: 10.1152/ajpen ...
A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9Q34
(Endocrine Soc, 1999)
Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have ...
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV
(Springer-Verlag Berlin, 2014)
Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients ...
Rosiglitazone-Associated Pseudotumour Cerebri
(Springer, 2006)
Pregnancy and Lactation Outcomes in a Turkish Patient With Lysinuric Protein Intolerance
(Springer-Verlag Berlin, 2014)
Maternal lysinuric protein intolerance (LPI) is associated with increased risk of anemia, toxemia, and retarded growth in fetus during pregnancy, and bleeding complications during delivery. There has been limited number ...