Results 71 to 80 of about 718 (127)

Prenatal diagnosis of molybdenum cofactor deficiency. [PDF]

Case Rep Perinat Med
Araújo MT, Vicente M, Carvalho I, Carocha AI, Conceição C, Martins A, Cohen Á, Rijo C.   +7 more
europepmc   +1 more source

Molybdenum cofactor deficiency: A natural history. [PDF]

J Inherit Metab Dis, 2022
Spiegel R, Schwahn BC, Squires L, Confer N.   +3 more
europepmc   +1 more source

Case Report: Infantile hypercalcemia type 1 due to CYP24A1 pathogenic variants-three adult patients with nephrolithiasis and nephrocalcinosis successfully treated with fluconazole. [PDF]

Front Med (Lausanne)
Vucenovic Basic N, Beck B, Balasko A, Vukovic Brinar I, Fistrek Prlic M.   +4 more
europepmc   +1 more source

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study. [PDF]

Genes (Basel)
Loukas YL, Anagnostopoulou K, Thodi G, Spanou M, Gavalas C, Molou E, Antonopoulou S, Poulopoulou A, Dotsikas Y, Alvanou M, Tegopoulos K, Pons R, Tziouvas K, Vartzelis G, Skouteli E, Loukatou E, Charitou A, Douros K, Siahanidou S, Giorgi M, Stephanede A, Angeli M, Nikolaidou M, Kokkinou E, Kouri I, Koute V, Frysira E, Dinopoulos A.   +27 more
europepmc   +1 more source

Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia. [PDF]

Pediatr Nephrol
Alsubaie H, Alluhaybi B, Zaidan F, Rahbeeni Z, Alsabban E, Alshareef T, Almaiman W, Alhuthil R, Saadeh S.   +8 more
europepmc   +1 more source

A robust six-gene prognostic signature based on two prognostic subtypes constructed by chromatin regulators is correlated with immunological features and therapeutic response in lung adenocarcinoma. [PDF]

Aging (Albany NY), 2023
Chen Q, Zhao H, Hu J.
europepmc   +1 more source

Characterization of molecular subtypes based on chromatin regulators and identification of the role of NPAS2 in lung adenocarcinoma. [PDF]

Clin Epigenetics, 2023
Huang Y, Xiao L, Daba MY, Xu D, Wang Y, Li L, Li Q, Liu B, Qin W, Zhang H, Yuan X.   +10 more
europepmc   +1 more source

Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia. [PDF]

Cureus
Alanazi AO, Alshammari NF, Alsuhibani W.
europepmc   +1 more source

[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Wu LH, Jiang Y, Hu Y.
europepmc   +1 more source

Genetic Insights into Persistent Hypouricemia in Adults: Novel Findings from an Adult Nephrogenetic Clinic. [PDF]

Kidney Dis (Basel)
Dirim AB, Suer I, Kalaycı T, Tahillioglu Y, Safak S, Ucar AR, Mirioglu S, Artan AS, Oto OA, Altınkaynak M, Ozturk S, Senturk L, Turkmen A, Yildiz A, Cefle K, Yazici H, Ozturk S.   +16 more
europepmc   +1 more source