Results 91 to 100 of about 57,073 (302)
Frontiers in EndocrinologyIntroductionChildren and young adults with congenital adrenal hyperplasia (CAH) are at increased risk of obesity and insulin resistance. There is evidence that children with CAH have increased visceral adiposity, which has been linked to metabolic ...
Jennifer Apsan +5 more
doaj +1 more source
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Frontiers in Endocrinology, 2019 The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
Duarte Pignatelli +10 more
doaj +1 more source
, 2017 AimWe analysed 25 children with 21-hydroxylase deficiency who received glucocorticoid and/or mineralocorticoid treatment for at least 12 months to determine the effects of the disease and its treatment on vascular structures and ventricular ...
Hüseyin Anil Korkmaz +11 more
core +1 more source
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams +8 more
wiley +1 more source
Acta Chimica Slovenica, 2016 Extraadrenal enzymes such as CYP2C19 may participate in residual 21-hydroxylation of progesterone leading to milder phenotypes of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Among 94 21OHD patients 28 were homozygous or
Urh Grošelj +5 more
doaj +1 more source
, 2017 This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To compare and determine the efficacy and safety of different glucocorticoid replacement regimens in the treatment of 21-hydroxylase deficiency CAH in children and ...
Ng, Sze May; id_orcid, Stepien, Karolina
core +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2019 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is associated with cardiovascular risk factors such as, hypertension, obesity, dyslipidemia, and insulin resistance.
Hüseyin Anıl Korkmaz +5 more
doaj +1 more source
Porcine kidney xenotransplantation: From primate models to clinical reality
Animal Models and Experimental Medicine, EarlyView.In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo +3 more
wiley +1 more source
Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort_Supplementary ...
Wenjuan Qiu (11161892) +3 more
core +1 more source