Results 81 to 90 of about 564,598 (106)

Mechanism of controlled radical initiation in radical SAM GTP 3',8-cyclase. [PDF]

Proc Natl Acad Sci U S A
Pang H, Li D, Wu Q, Zhang P, Yang W, Silakov A, Zhou P, Yokoyama K.   +7 more
europepmc   +1 more source

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. [PDF]

Neurol Genet, 2020
Misko AL, Liang Y, Kohl JB, Eichler F.
europepmc   +1 more source

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release. [PDF]

J Clin Invest
Fu CY, Kohl JB, Liebsch F, D'Andrea D, Ditrói T, Ogata S, Neuser F, Mai M, Mellis AT, Kouroussis E, Morita M, Gehling T, Santamaria-Araujo JA, Yeo SY, Endepols H, Křížková M, Kozich V, Krueger M, Hennermann JB, Barayeu U, Akaike T, Nagy P, Filipovic M, Schwarz G.   +23 more
europepmc   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

Advances in Genetic Testing of Neurologically Abnormal Neonates in the Neonatal Intensive Care Unit. [PDF]

Clin Perinatol
Burns W, Haffner D, Chaudhari BP.
europepmc   +1 more source

Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy. [PDF]

EMBO Mol Med
Bruckisch EHW, de Melo Aragão M, Dos Santos Rohde T, Huber AK, de Oliveira Torres M, Schwarz G, Liebsch F.   +6 more
europepmc   +1 more source

Real-World Evidence in New Drug and Biologics License Application Approvals During Fiscal Years 2020-2022. [PDF]

Clin Pharmacol Ther
Innes GK, Smith KA, Kuzucan A, Li J, Rivera D, Panagiotou OA, Concato J.   +6 more
europepmc   +1 more source

Editorial: Movement disorders in neurometabolic conditions. [PDF]

Front Neurol
Garg D, Sharma S, Mohammad SS, Prasad AN.   +3 more
europepmc   +1 more source

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases. [PDF]

Orphanet J Rare Dis
Vaghela S, Tanni KA, Banerjee G, Sikirica V.   +3 more
europepmc   +1 more source