Results 131 to 140 of about 12,812 (223)

[Glutaric aciduria type I].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1992
Glutaric aciduria type I is a congenital metabolic disease caused by an enzymatic defect in the degradation of the amino acids lysine and tryptophane. This article presents five Norwegian patients with this condition. Early clinical features may be similar to those of encephalitis.
A B, Ostensen, O H, Skjeldal, E, Monn, K, Motzfeldt, A, Fossen, E, Jellum, J K, Hald, R, Bostad   +7 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  

Neurophysiologic features in glutaric aciduria type I

The Turkish Journal of Pediatrics, 2005
Neurophysiologic abnormalities are frequently seen in organic acidemias, but knowledge of the specific changes in the different types of organic acidemias is lacking.
Dilek Yalnizoğlu, Neriman Sari, Güzide Turanli, Turgay Coşkun, Meral Topçu   +4 more
doaj  

Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH

Stem Cell Research
GCDH encodes for the enzyme catalyzing the sixth step of the lysine degradation pathway. Autosomal recessive variants in GCDH are associated with glutaric aciduria type I (GA1), of which a wide genotypic spectrum of pathogenic variants have been ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Antonia Ribes, Nael Nadif Kasri, Alejandro Garanto   +5 more
doaj   +1 more source

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

Cardiogenic shock and asphyxial cardiac arrest due to glutaric aciduria type II. [PDF]

World J Emerg Med, 2023
Xie HP, Zeng WJ, Chen LX, Xie ZX, Wang XP, Zhao S.   +5 more
europepmc   +1 more source

A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3. [PDF]

Mol Syndromol, 2023
Demir E, Doğulu N, Tuna Kırsaçlıoğlu C, Topçu V, Eminoglu FT, Kuloğlu Z, Kansu A.   +6 more
europepmc   +1 more source

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH. [PDF]

Fundam Res, 2022
Guo L, Li Z, Li Y, Qu B, Jiao G, Liang C, Lu Z, Wang XG, Huang C, Du H, Liang J, Zhou Q, Li W.   +12 more
europepmc   +1 more source

Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II. [PDF]

Front Neurol, 2023
Zhu S, Ding D, Jiang J, Liu M, Yu L, Fang Q.   +5 more
europepmc   +1 more source

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia. [PDF]

J Med Cases, 2022
Sousa Martins R, Guimas A, Rocha S, Ribeiro R, Martins E, Almeida M, Quelhas D.   +6 more
europepmc   +1 more source