Results 121 to 130 of about 19,908 (200)

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease. [PDF]

Pharmaceutics
Guerrero-Vargas JM, Suarez-Garcia DA, Leal AF, Diaz-Ariza IL, Pérez-Pérez LD, Espejo-Mojica AJ, Alméciga-Díaz CJ.   +6 more
europepmc   +1 more source

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation. [PDF]

Neurol Ther
Cook A, Stuart B, Ochoa-Ferraro A, Condon N, Lawrence M, Webley F, Wallom KL, Forbes C, Veeranna V, Wanninayake S, Oliver T, Davies N, Dawson C, Platt F, Geberhiwot T.   +14 more
europepmc   +1 more source

Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy. [PDF]

Children (Basel)
Guner Yilmaz B, Abali S, Moniri A, Kilinckaya U, Altinbas E, Ay B, Karakose B, Sahinoglu Y, Sahinoglu M, Yilmaz B, Serteser M, Korkmaz A, Pata O, Beken S.   +13 more
europepmc   +1 more source

Case Report: Neonatal-onset chylomicron retention disease presenting as isolated failure to thrive with compound heterozygous <i>SAR1B</i> variants: the value of early genetic testing and challenges of long-term management. [PDF]

Front Pediatr
Liu B, Zhang C.
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia. [PDF]

BMC Pediatr
Abd Elbaky MA, Shehata M, Abdelkhalek K, Girgis MY, Elmonem MA.   +4 more
europepmc   +1 more source

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Inborn errors of lipid metabolism-dermatological aspects

Clinical and Experimental Dermatology, 1988
Summary Skin manifestations of inborn errors of metabolism may be the first alerting clue that leads to their diagnosis. Therefore, practising dermatologists should he familiar with presenting symptoms as well as diagnostic alternatives in this field.
R M, Knobler, S, Becerano, W, Gebhart
openaire   +3 more sources

Inborn Errors of Lipid Metabolism: Early Identification

Clinics in Perinatology, 1976
Early recognition of the seven major lipidoses in early infancy is discussed and the potential for prenatal diagnosis is considered. Establishment of such diagnosis constitutes a massive threat for the infant and is a critical assault upon family equilibrium. In view of this, treatment issues common to all seven syndromes are presented.
A. Crocker
openaire   +3 more sources

The enzymatic diagnosis of some inborn errors of lipid metabolism

Pathology, 1975
Work is currently in progress in this laboratory to establish and extend existing methods for the perinatal diagnosis of inborn errors of metabolism by the measurement of a wide range of enzyme activities, with particular emphasis on those associated with sphingolipid storage disorders.
W.F. Carey, G.N. Hill, A. Croser, A.C. Pollard   +3 more
openaire   +2 more sources