Results 111 to 120 of about 565,458 (146)

Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China. [PDF]

Front Genet
Luo H, Wang J, Chen J, Yi H, Yang X, Peng Y, Ni L, Yang YQ, Zhang XM, Huang H.   +9 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

Gene therapy: The current trajectory of clinical and commercial translation. [PDF]

Prog Biophys Mol Biol
Gibson JR, Cottle RN.
europepmc   +1 more source

Foods for special medical purposes for the dietary therapy of rare diseases: Current status and future prospects. [PDF]

Intractable Rare Dis Res
Zhang T, Wang Y, Shi C, Zi Y, Cai W, Zhong J.   +5 more
europepmc   +1 more source

Gene therapy for liver diseases: methods, challenges and opportunities. [PDF]

J Nanobiotechnology
Yan M, Xiang Q.
europepmc   +1 more source

Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong. [PDF]

Cureus
Hung LY, Mak CM, Foo KC, Chan CHT, Tong HF, Wong TK, Leung HS, Cheung KC, Lee HCH, Ching CK.   +9 more
europepmc   +1 more source

Metabolic Liver Diseases Presenting as Pediatric Onset Hypoglycemia: A Hepatologist's Primer. [PDF]

J Clin Exp Hepatol
Verma S, Sood V, Lal BB, Khanna R, Alam S.   +4 more
europepmc   +1 more source

Serum methylmalonic acid concentrations at breast cancer diagnosis significantly correlate with clinical frailty. [PDF]

Geroscience
Wu Q, Hatse S, Kenis C, Fernández-García J, Altea-Manzano P, Billen J, Planque M, Vandekeere A, Lambrechts Y, Richard F, Punie K, Neven P, Smeets A, Nevelsteen I, Floris G, Desmedt C, Gomes AP, Fendt SM, Wildiers H.   +18 more
europepmc   +1 more source

Quo vadis ureagenesis disorders? A journey from 90 years ago into the future. [PDF]

J Inherit Metab Dis
Häberle J, Siri B, Dionisi-Vici C.
europepmc   +1 more source

Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review. [PDF]

JIMD Rep
Sherlock C, Clarke K, Jordan N.
europepmc   +1 more source