Results 121 to 130 of about 6,948 (153)

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers. [PDF]

Cureus
Thomas J, George A, Mrittika S, Ahmad B, Wilcox G.   +4 more
europepmc   +1 more source

Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. [PDF]

Orphanet J Rare Dis
Salarian L, Ilkhanipoor H, Amirhakimi A, Afshar Z, Nahid S, Moradi Ardekani F, Rahimi N, Yazdani N, Nikravesh A, Beyzaei Z, Moravej H.   +10 more
europepmc   +1 more source

Orthotopic Liver Transplantation in Children With Hepatic-Based Metabolic Disease. [PDF]

, 1983
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Zitelli, BJ   +5 more
core  

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

Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report. [PDF]

Cureus
Alabbasi L, Ben Turkia H, Nass M, Sahin I.   +3 more
europepmc   +1 more source

Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy. [PDF]

Metabolites
Shear MA, LaTray A, Chang IJ, Post A, Gallagher RC.   +4 more
europepmc   +1 more source

Ketone Body Induction: Insights into Metabolic Disease Management. [PDF]

Biomedicines
Yoo BM, Kim SR, Lee BW.
europepmc   +1 more source

Genetic Defects in Thyroid Hormone Supply. [PDF]

, 2014
FENZI, GIANFRANCO, MACCHIA, PAOLO EMIDIO, NETTORE, IMMACOLATA CRISTINA   +2 more
core  

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source