Results 191 to 200 of about 21,421 (302)

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism. [PDF]

Case Rep Med
Cullufi P, Hoxha G, Gjeta I, Dervishi E, Velmishi V, Jazexhiu-Postoli E, Kola E, Tomori S, Sala D, Tabaku M.   +9 more
europepmc   +1 more source

Children's health: insights from space medicine on metabolic health. [PDF]

NPJ Microgravity
Ferraro S, Ghani F, Tosi M, Dave A, Verduci E, Mauri A, Zuccotti G, Mason CE, Marcovina S.   +8 more
europepmc   +1 more source

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
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

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
europepmc   +1 more source

[The inborn errors of metabolism of amino acids].

Postepy biochemii, 1973
openaire   +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

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

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