Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner, F Emma, L Seefried, W Högler… - Nature Reviews …, 2025 - nature.com
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic
variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and …

The complete European guidelines on phenylketonuria: diagnosis and treatment

AMJ Van Wegberg, A MacDonald, K Ahring… - Orphanet journal of rare …, 2017 - Springer
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

The National Osteoporosis Foundation's position statement on peak bone mass development and lifestyle factors: a systematic review and implementation …

CM Weaver, CM Gordon, KF Janz, HJ Kalkwarf… - Osteoporosis …, 2016 - Springer
Abstract Lifestyle choices influence 20–40% of adult peak bone mass. Therefore,
optimization of lifestyle factors known to influence peak bone mass and strength is an …

Functional hypothalamic amenorrhea: an endocrine society clinical practice guideline

CM Gordon, KE Ackerman, SL Berga… - The Journal of …, 2017 - academic.oup.com
Abstract Cosponsoring Associations: The American Society for Reproductive Medicine, the
European Society of Endocrinology, and the Pediatric Endocrine Society. This guideline was …

ESPEN-ESPGHAN-ECFS guideline on nutrition care for cystic fibrosis

M Wilschanski, A Munck, E Carrion, M Cipolli, S Collins… - Clinical Nutrition, 2024 - Elsevier
Background Nutritional status is paramount in Cystic Fibrosis (CF) and is directly correlated
with morbidity and mortality. The first ESPEN-ESPGHAN-ECFS guidelines on nutrition care …

Menses requires energy: a review of how disordered eating, excessive exercise, and high stress lead to menstrual irregularities

K Huhmann - Clinical therapeutics, 2020 - Elsevier
Purpose Functional hypothalamic amenorrhea secondary to low weight, excessive exercise,
and/or high levels of stress is common among young women. Adolescence is a time in …

Best practices for dual-energy X-ray absorptiometry measurement and reporting: International Society for Clinical Densitometry Guidance

EM Lewiecki, N Binkley, SL Morgan, CR Shuhart… - Journal of clinical …, 2016 - Elsevier
Dual-energy X-ray absorptiometry (DXA) is a technology that is widely used to diagnose
osteoporosis, assess fracture risk, and monitor changes in bone mineral density (BMD). The …

Fracture prediction, imaging and screening in osteoporosis

NR Fuggle, EM Curtis, KA Ward, NC Harvey… - Nature Reviews …, 2019 - nature.com
Osteoporosis is associated with increased fragility of bone and a subsequent increased risk
of fracture. The diagnosis of osteoporosis is intimately linked with the imaging and …

Muscle-bone cross-talk through the FNIP1-TFEB-IGF2 axis is associated with bone metabolism in human and mouse

Y Mao, Z **, J Yang, D Xu, L Zhao, A Kiram… - Science Translational …, 2024 - science.org
Clinical evidence indicates a close association between muscle dysfunction and bone loss;
however, the underlying mechanisms remain unclear. Here, we report that muscle …

Maternal gestational vitamin D supplementation and offspring bone health (MAVIDOS): a multicentre, double-blind, randomised placebo-controlled trial

C Cooper, NC Harvey, NJ Bishop… - The lancet Diabetes & …, 2016 - thelancet.com
Background Maternal vitamin D status has been associated with bone mass of offspring in
many, but not all, observational studies. However, maternal vitamin D repletion during …