Results 51 to 60 of about 320 (90)

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

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

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

A Pitfall of Adrenal Hypoplasia Congenita. [PDF]

Clin Pediatr (Phila)
Abe J, Tsubaki J, Shimura K, Hasegawa T.
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

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

Neonatal lupus erythematosus: an acquired autoimmune disease to be taken seriously. [PDF]

Ann Med
Sun W, Fu C, Jin X, Lei C, Zhu X.
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

Diagnosis and management of presumptive cyclic vomiting syndrome in a dog: first report in veterinary medicine. [PDF]

BMC Vet Res
Joo JB, Kim K, Ro WB, Lee CM.
europepmc   +1 more source