Results 71 to 80 of about 401 (114)

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature. [PDF]

Acta Myol, 2023
Pizza A, Picillo E, Onore ME, Scutifero M, Passamano L, Nigro V, Politano L.   +6 more
europepmc   +1 more source

Transient Third-Degree Atrioventricular Block in a Dog with Addisonian Crisis. [PDF]

Vet Sci
Pașca PM, Solcan G, Blageanu A, Lăcătuș CM, Peștean PC, Stancu CA, Baisan AR.   +6 more
europepmc   +1 more source

Tertiary adrenal insufficiency in a patient with familial Mediterranean fever: Association or coincidence? [PDF]

Arch Rheumatol
Harai N, Hanai S, Hosokawa T, Tsuchiya K, Nakagomi D.   +4 more
europepmc   +1 more source

Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report. [PDF]

BMC Pediatr, 2022
Tao N, Liu X, Chen Y, Sun M, Xu F, Su Y.
europepmc   +1 more source

Disproportionality Analysis of Adverse Events Associated with IL-1 Inhibitors in the FDA Adverse Event Reporting System (FAERS). [PDF]

Pharmaceuticals (Basel)
Lei J, Lou Z, Jiang Y, Cui Y, Li S, Hu J, Jing Y, Yang J.   +7 more
europepmc   +1 more source

Effectiveness of endoscopic transsphenoidal surgery for gonadotroph adenoma mimicking dementia: A case report. [PDF]

Intractable Rare Dis Res, 2019
Morinaga Y, Abe I, Sakamoto K, Inoue R, Mitsutake T, Hanada H, Haraoka S, Nii K.   +7 more
europepmc   +1 more source

New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images. [PDF]

Mol Genet Genomic Med, 2023
Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H.   +9 more
europepmc   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling. [PDF]

Balkan J Med Genet
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N.   +7 more
europepmc   +1 more source

A Structural Bioinformatics-Guided Study of Adenosine Triphosphate-Binding Cassette (ABC) Transporters and Their Substrates. [PDF]

Membranes (Basel)
Younus I, Ford RC, Prince SM.
europepmc   +1 more source

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. [PDF]

Hum Genet, 2023
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ.   +25 more
europepmc   +1 more source