Results 241 to 250 of about 794,897 (330)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi, Annarita Baldassarri, Roberta Villa, Federico Tanzi, Simona Salera, Vincenza Lombardo, Alessandro Draghi, Nicole Piazza O'Sed, Giovanni Casazza, Maurizio Vecchi, Mirella Fraquelli   +10 more
wiley   +1 more source

Vitamin D Supplementation in Critically Ill-Narrative Review. [PDF]

Nutrients
Saric L, Domazet Bugarin J, Dosenovic S.
europepmc   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Kate Neal, Heather J. Church, James A. Cooper, Karolina M. Stepien   +8 more
wiley   +1 more source

Research advances in children's sleep and vitamin D levels. [PDF]

Ann Pediatr Endocrinol Metab
Zhu L, Yao D.
europepmc   +1 more source

Further Studies in Abnormal Blackening of Feathers of Vitamin D Deficient Chicks

, 1948
E.W. Glazener, George M. Briggs
openalex   +1 more source

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

Effect of Single High Dose Vitamin D Administration in Critically Ill Vitamin D-deficient Pediatric Patients: A Randomized Trial. [PDF]

Indian J Crit Care Med
Sakkarwal M, Pallavi P, Jhamb U, Saxena R.   +3 more
europepmc   +1 more source

Growth and Calcification of Bronze Turkey Poults from Hens Fed Different Levels of Vitamin D

, 1941
E.I. Robertson, Morris Rhian, L.A. Wilhelm   +2 more
openalex   +1 more source

Potential New Expression Biomarkers for Anorexia Nervosa

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta‐analysis of genome‐wide association studies on AN identified independent risk‐conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated.
Camille Verebi, Nicolas Lebrun, Justine Vily Petit, Odile Viltart, Philibert Duriez, Benjamin Saint‐Pierre, Philip Gorwood, Nicolas Ramoz, Thierry Bienvenu   +8 more
wiley   +1 more source

Association between magnesium and vitamin D status in adults with high prevalence of vitamin D deficiency and insufficiency. [PDF]

Eur J Nutr
Zittermann A, Zelzer S, Herrmann M, Kleber M, Maerz W, Pilz S.   +5 more
europepmc   +1 more source