Results 201 to 210 of about 167,642 (275)

Expansion of Splice-Switching Therapy with Antisense Oligonucleotides. [PDF]

Int J Mol Sci
Takeshima Y.
europepmc   +1 more source

Urinary Screening for Aminoacidurias Using Chromatography and Serum Amino Acid Profile in Type 2 Diabetes and Healthy Controls. [PDF]

Biochem Res Int
B J S, Parashar S, Tomar BS, Meena A, B J P.   +4 more
europepmc   +1 more source

A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient. [PDF]

Mol Genet Metab Rep
Pokhrel S, Sainju S, Lamsal P, Chhetri UD.   +3 more
europepmc   +1 more source

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients. [PDF]

Int J Mol Sci
Nguyen KN, Dien TM, Can TBN, Thao BP, Do TS, Dang TKG, Nguyen NL, Tran VK, Nguyen TT, Trang TTQ, Phuong LT, Nguyen PL, Tran TH, Tu NH, Vu CD.   +14 more
europepmc   +1 more source

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report. [PDF]

Neurol Genet
Bachmann T, Faust H, Abou Jamra R, Pott C, Kluge M, Rumpf JJ, Then Bergh F, Beblo S.   +7 more
europepmc   +1 more source

Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight-Metabolome Correlations. [PDF]

Anal Chem
Asef CK, Moore SG, Pickens CA, Saavedra-Matiz CA, Orsini JJ, Petritis K, Gaul DA, Fernández FM.   +7 more
europepmc   +1 more source

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Metabolomic Exploration of Colorectal Cancer Through Amino Acids and Acylcarnitines Profiling of Serum Samples. [PDF]

Cancers (Basel)
Avram L, Crișan D, Moldovan RC, Bogos LG, Iuga CA, Andraș D, Crișan S, Bodolea C, Nemeş A, Donca V.   +9 more
europepmc   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report. [PDF]

BMC Pediatr
Baidya S, Thapa J, Kadel A, Kharal N, Lamichhane M, Dubey RK, Raut M, Bhattarai A, Tuladhar ET, Sharma VK, Niraula A.   +10 more
europepmc   +1 more source