Results 41 to 50 of about 310 (92)

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

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

Mortality in patients with adrenal insufficiency: a protocol for a systematic review and meta-analysis. [PDF]

BMJ Open
Allosso F, Dalakas K, Bergthorsdottir R, Chantzichristos D, Hessman E, Nwaru BI, Bobbio E, Pasquali D, Johannsson G, Esposito D.   +9 more
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

A Pitfall of Adrenal Hypoplasia Congenita. [PDF]

Clin Pediatr (Phila)
Abe J, Tsubaki J, Shimura K, Hasegawa T.
europepmc   +1 more source

Pseudohypoaldosteronism and acquired renal aldosterone resistance with hyperkalemic type IV renal tubular acidosis in 2 cats. [PDF]

J Vet Intern Med
Marino CL, Foster JD.
europepmc   +1 more source

Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism. [PDF]

Front Endocrinol (Lausanne), 2022
Zhu F, Zhou M, Deng X, Li Y, Xiong J.
europepmc   +1 more source

Signalment, clinical characteristics, and echocardiographic findings in dogs affected by secondary atrial fibrillation with and without concomitant frequent and complex ventricular arrhythmias. [PDF]

Front Vet Sci
Romito G, Mazzoldi C, Riccio C, Fogli M, Paradies P, Recchia A, Pelle NG, Testa F, Valente C, Poser H, Arcuri G, Contiero B, Guglielmini C.   +12 more
europepmc   +1 more source

Idiopathic and structural episodic nonintentional head tremor in dogs: 100 cases (2004-2022). [PDF]

J Vet Intern Med, 2023
Liatis T, Bhatti SFM, Dyrka M, Gutierrez-Quintana R, Gonçalves R, Madden M, De Decker S.   +6 more
europepmc   +1 more source