Results 141 to 150 of about 3,221 (198)

Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]

Front Mol Neurosci
Valderrama GV, Moreira GA, Arruda P.
europepmc   +1 more source

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations. [PDF]

Orphanet J Rare Dis
Handoom B, Alohali E, Elsagher H, Alohali L, Alhamed N, Alabyad W.   +5 more
europepmc   +1 more source

Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies. [PDF]

Front Nutr
Cui W, Wang N, Shi M, Xu X, Jiang H.
europepmc   +1 more source

Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia. [PDF]

JBRA Assist Reprod
Idárraga GDO, Suárez IDM, Muriel LMC, Osorio KGH, Corredor DMD, Montealegre PA.   +5 more
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

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. [PDF]

Int J Neonatal Screen
Morishima S, Shimada Y, Watanabe Y, Ihara K.   +3 more
europepmc   +1 more source

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source

Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia. [PDF]

JCI Insight
Hemmingsen MG, Zhang GF, Ma Y, Marchuk H, Patel KR, Chen T, Li X, Chapman M, Collias S, Lopez-Terrada DH, Beasley J, Stiles AR, Chandler RJ, Venditti CP, Young SP, Barzi M, Bissig-Choisat B, Krafte D, Newgard CB, Bissig KD.   +19 more
europepmc   +1 more source