Results 121 to 130 of about 3,887 (227)

[Vegetarian diet in glutaric aciduria type I].

Anales de pediatria (Barcelona, Spain : 2003), 2003
Glutaric aciduria type I is an autosomal recessive metabolic disease (1 case/30,000) characterized by a progressive dystonic-diakinetic syndrome in children. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency.
M C, Carrascosa Romero, L, Abad Ortiz, I, Cuartero del Pozo, R, Ruiz Cano, R, Tébar Gil   +4 more
openaire   +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience [PDF]

, 2009
Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases.
Boehles, H, Fateen, E, Gouda, A, Sewell, A   +3 more
core   +1 more source

Glutaric aciduria type-I: A potentially treatable and easily diagnosable neurometabolic disorder

Medical Journal of Dr. D.Y. Patil University, 2016
Mahesh Kamate
doaj   +1 more source

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke. [PDF]

Mov Disord Clin Pract, 2018
Demailly D, Vianey-Saban C, Acquaviva C, Gonzalez V, Rubio IA, Cyprien F, Roujeau T, Masoliver A, Leboucq N, Coubes P, Cif L.   +10 more
europepmc   +1 more source

Glutaric aciduria (type I): prenatal ultrasonographic findings [PDF]

Ultrasound in Obstetrics & Gynecology, 2002
S. K. Lin, S. G. Hsu, E. S. C. Ho, C. R. Tsai, Y. T. Hseih, F. C. Lo, H. Y. Lai, M. H. Chen   +7 more
openaire   +1 more source

[Type I glutaric aciduria].

Neurologia (Barcelona, Spain), 1998
J M, Prats Viñas, C, Garaizar Axpe
openaire   +1 more source

A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus.

J Clin Imaging Sci, 2018
Rajani H, Grover SB, Antil N, Katyan A.
europepmc   +1 more source

Glutaric aciduria type I.

Indian pediatrics, 2002
M M, Muranjan, V, Kantharia, S B, Bavdekar, M, Ursekar   +3 more
openaire   +1 more source

Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series. [PDF]

JIMD Rep, 2015
Brown A, Crowe L, Beauchamp MH, Anderson V, Boneh A.   +4 more
europepmc   +1 more source