Results 191 to 200 of about 74,382 (356)

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore   +6 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

Waktu Penutupan Epifisis Tulang Radius dan Ulna Bagian Distal

open access: diamond, 2017
Tiara Mayang Pratiwi Lio   +3 more
openalex   +2 more sources

Associations of Semaglutide With Skeletal Outcomes in People With Obesity, With and Without Type 2 Diabetes: A Target Trial Emulation

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To evaluate the associations between semaglutide initiation and long‐term skeletal outcomes in people with obesity, stratified by type 2 diabetes (T2D) status, using target trial emulation. Materials and Methods This retrospective cohort study used the TriNetX federated electronic health record network.
Yu‐Nan Huang   +8 more
wiley   +1 more source

A Comprehensive X-ray Dataset for Pediatric Ulna and Radius Fractures Analysis. [PDF]

open access: yesSci Data
Tang S   +7 more
europepmc   +1 more source

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