Results 131 to 140 of about 4,483 (224)

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

Imaging Signs in Pediatric Neuroradiology– Non-Congenital Causes: A Pictorial Essay

Journal of the Korean Society of Radiology
Non-congenital pediatric brain disorders have several etiologies, including genetic, metabolic, and toxic. These disorders often present with distinctive imaging signs that reflect specific underlying biochemical and structural abnormalities and ...
Foram Gala, Nikshita Jain, Nishigandha Salunke   +2 more
doaj   +1 more source

Glutaric Aciduria Type 1: A Case Report and Review of Literature. [PDF]

J Pediatr Intensive Care, 2021
Sanju S, Tullu MS, Seshadri N, Agrawal M.   +3 more
europepmc   +1 more source

Glutaric aciduria type 1 in adulthood. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1996
M C Prevett, R S Howard, R N Dalton, S E Olpin   +3 more
openaire   +1 more source

Glutaric Aciduria Type 1

, 2012
Yune Kwong, Jeremy Jones, Ahmed Elhusseiny   +2 more
  +4 more sources

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study. [PDF]

Sci Rep, 2021
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N.   +23 more
europepmc   +1 more source

Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1. [PDF]

J Pediatr Genet, 2021
Tamhankar PM, Vasudevan L, Kondurkar P, Niazi S, Christopher R, Solanki D, Dholakia P, Muranjan M, Kamate M, Kalane U, Sheth J, Tamhankar V, Gulati R, Vasikarla M, Danda S, Naushad SM, Girisha KM, Patil S.   +17 more
europepmc   +1 more source

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey. [PDF]

Nutrients, 2020
Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F.   +4 more
europepmc   +1 more source

[Type 1 glutaric aciduria: clinical and therapeutic implications].

Neurologia (Barcelona, Spain), 2007
Type 1 glutaric aciduria is a genetic disease that produces a deficiency in the glutaryl CoA dehydrogenase enzyme. This deficiency entails an elevation of glutaric acid and 3-OH glutaric acid. Dystonia is the predominant symptom. The symptoms appear after an asymptomatic period during the first months of life. It may present chronically and insidiously
P E, Jiménez Caballero, C, Marsal Alonso   +1 more
openaire   +1 more source