Results 151 to 160 of about 17,668 (251)

Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic Review. [PDF]

J Pers Med
Ramirez J, Leal-Witt MJ, Cabello JF, Cornejo V.   +3 more
europepmc   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 more
europepmc   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series. [PDF]

Cureus
Frankevich N, Tokareva A, Makieva M, Mikhailova O, Akhapkina E, Frankevich V.   +5 more
europepmc   +1 more source

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +1 more source

Mental Reterdation in Inborn Errors of Amino Acid Metabolism

Eiyo To Shokuryo, 1976
Keiya TADA, Hisao AOKI, Goro TAKADA, Kiyoshi OMURA   +3 more
openaire   +2 more sources

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
europepmc   +1 more source

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

Lipidomic Signatures in Pediatric Metabolic Disorders. [PDF]

Metabolites
Narvaez-Rivas M, Setchell KDR.
europepmc   +1 more source

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease. [PDF]

JIMD Rep
Manoy S, Murray C, Lynch M, Minto T, Choo K, Bursle C, Lipke M, McGill J, Inwood A, Coman D.   +9 more
europepmc   +1 more source