Results 111 to 120 of about 17,115 (162)

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions. [PDF]

Int J Neonatal Screen
Thimm E, Riederer A, Vockley J, Dobbelaere D, Williams M, MacDonald A, Dokoupil K, Schatz UA, Ensenauer R.   +8 more
europepmc   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Reconsidering the urea-to-creatinine ratio as a signal of muscle catabolism in patients with cirrhosis. [PDF]

Crit Care
Oussalah A, Haghnejad V, Audouy A, Silva Rodriguez M, Guéant JL, Namour F, Bronowicki JP.   +6 more
europepmc   +1 more source

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. [PDF]

Ital J Pediatr
Leo F, Barchi L, Russo G, Balestri E, Chesi E, Di Dio F, Garavelli L, Iughetti L, Gargano G.   +8 more
europepmc   +1 more source

APOE genotype influences on the brain metabolome of aging mice - role for mitochondrial energetics in mechanisms of resilience in APOE2 genotype. [PDF]

Mol Neurodegener
Borkowski K, Liang N, Zhao N, Arnold M, Huynh K, Karu N, Mahmoudiandehkordi S, Kueider-Paisley A, Kanekiyo T, Bu G, Kaddurah-Daouk R, Alzheimer’s Disease Metabolomics Consortium.   +11 more
europepmc   +1 more source

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]

BMJ Case Rep
Gulzar MM, Sarani ZA, Tariq M, Knerr I.
europepmc   +1 more source

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]

Heliyon
Mondesert E, Baud B, Roubertie A, Benoist JF, Grillet PE, Cristol JP, Francois-Heude MC, Schiff M, Badiou S.   +8 more
europepmc   +1 more source

Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria. [PDF]

Orphanet J Rare Dis
Liu H, Xu M, Chen M, Peng Y, Ye L, Yin YF, Miao JK.   +6 more
europepmc   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis. [PDF]

J Inherit Metab Dis
Clayton PT, Hirachan R, Murphy E.
europepmc   +1 more source

Rethinking Childhood-Onset Hypertrophic Cardiomyopathy: A Review of Molecular Mechanisms and Unique Therapy Considerations. [PDF]

J Cardiovasc Dev Dis
Menzies C, Dolinsky VW.
europepmc   +1 more source