Results 91 to 100 of about 3,704 (134)

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
europepmc   +1 more source

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia. [PDF]

J Inherit Metab Dis
Bellagamba O, Guo AJ, Senthilkumar S, Lillevik SH, De Biase D, Lai K, Balakrishnan B.   +6 more
europepmc   +1 more source

Unique chicken B cell development: species-specific mechanisms and contradictory requirements of B cell receptor for post-hatched B cell development. [PDF]

Front Immunol
Woo SJ, Songodan T, Han JY.
europepmc   +1 more source

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes. [PDF]

Int J Neonatal Screen
Jamaleddin T, El-Akouri K, Abiib S, Mitri R, Ramaswamy M, Musa S, Ali R, Shahbeck N, Al Rifai H, Abdoh G, Ben-Omran T, Al-Dirbashi OY, Al-Shafai M.   +12 more
europepmc   +1 more source

Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia. [PDF]

Int J Neonatal Screen
Suzuki-Ajihara S, Musha I, Arao M, Mori K, Fujibayashi S, Ryo I, Kono T, Tajima A, Mochizuki H, Imai-Okazaki A, Araki R, Numakura C, Ohtake A.   +12 more
europepmc   +1 more source

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]

Am J Case Rep
Al-Ahmari AA.
europepmc   +1 more source

Appendix in ulcerative colitis pathogenesis and therapy: An updated narrative review. [PDF]

World J Gastrointest Pathophysiol
AbdelGhani O, Elhariri S, Bhatnagar P, Aung HH, Abdel Wahab M, Eid N.   +5 more
europepmc   +1 more source

Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document. [PDF]

Mol Genet Metab Rep
Robertson L, Tapley S, Sparks A, McDonald J, Condie E, Bailey S.   +5 more
europepmc   +1 more source

Neonatal Conjugated Hyperbilirubinemia: Clinical Profile, Etiology, and Predictors of Adverse Outcomes in a NICU of a Tertiary Care Center. [PDF]

Cureus
Ramya K, Verma SK, Verma M, Priyadarshini P, Singh SN, Avasthi S, Shukla S.   +6 more
europepmc   +1 more source

Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia. [PDF]

J Clin Immunol
Kristal E, Khalaila A, Asleh M, Quider AA, Eshel YD, Mahdi NE, Hadad N, Almashanu S, Miskin H, Staretz-Chacham O, Ben-Harosh M.   +10 more
europepmc   +1 more source