Results 41 to 50 of about 320 (90)

A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report. [PDF]

BMC Endocr Disord, 2021
Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, Muthukumarana O, Jasinge E, Mettananda S.   +7 more
europepmc   +1 more source

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers. [PDF]

Sci Rep
Brown E, Varney S, Young A, Wolf Z, Foreman O, Wade CM, Hughes A, Oberbauer A, Safra N, Lindblad-Toh K, Burton S, Bannasch D.   +11 more
europepmc   +1 more source

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene. [PDF]

J Pediatr (Rio J)
Esquiaveto-Aun AM, de Lemos-Marini SHV, Guaragna MS, Mazzola TN, de Ferran K, Berardo RS, Gilban DLS, Schnaider GS, Kopacek C, Madeira IR, Nascimento ML, de Mello MP, Guerra-Junior G.   +12 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

Dilated Cardiomyopathy Phenotype With Global (Four-Chamber) Involvement in a Cat: Echocardiographic, Pathological, Histopathological, and Immunohistochemical Findings. [PDF]

Case Rep Vet Med
Romito G, Costa A, Morini M.
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

Malignant Endo-suprasellar Glioma: A Case Report and a Brief Review of the Literature. [PDF]

Int J Endocrinol Metab, 2022
Berkovskaya M, Grigoriev AY, Zhuravlev KN, Fadeev VV.   +3 more
europepmc   +1 more source

Case Report: Presumed cerebral salt wasting syndrome in a 10-week-old German Shorthaired Pointer. [PDF]

Front Vet Sci
Jackson E, Fefer G, Muñana KR, Hansen BD.   +3 more
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

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