Results 131 to 140 of about 2,017,541 (209)

P872: Hospitalization of patients with organic acidemias: Clinical characteristics and economic evaluation

Genetics in Medicine Open
Mark Dulchavsky, Elizabeth Ames
doaj   +1 more source

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

Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis. [PDF]

Pediatr Rep
Campos-Acevedo LD, Arenas-Estala J, Ibarra-Ramírez M, López-Uriarte GA, Ruíz-Herrera MC, Rodríguez-Rivera M, Martínez-de-Villarreal LE.   +6 more
europepmc   +1 more source

Methylmalonic Acidemia: A Review of Cases in Jordan. [PDF]

Cureus
Alakil M, Megdadi NA, Alghonemeen L, Alrababah S, Altawarah N, Alqyam S.   +5 more
europepmc   +1 more source

Neurofilament proteins in brain diseases [PDF]

, 2006
Braissant, O.
core  

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +1 more source

atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its found mutation in Iraqi Jews, ” Am J Hum Genet 2001; 69(6): 1218-1224. [PDF]

Arbelaez A, Broide E, Castillo M, Elpeleg O   +3 more
core  

Organic aciduria associated with isovaleric acidemia.

Clinical Chemistry, 1983
A Grauaug, N P French, S J Wysocki
openaire   +1 more source

Pseudoparalysis in Infantile Vitamin B12 Deficiency. [PDF]

Ann Indian Acad Neurol
Kumar P, Tyagi A, Vyas S, Verma S, Sankhyan N.   +4 more
europepmc   +1 more source

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency. [PDF]

Cureus
Baheer Abdulwahhab S, Ahmed A, Ben Omran T.   +2 more
europepmc   +1 more source