Results 51 to 60 of about 5,746 (195)

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH

Fundamental Research, 2022
Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li   +12 more
doaj   +1 more source

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source

Hypoglycaemia related to inherited metabolic diseases in adults

Orphanet Journal of Rare Diseases, 2012
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious.
Douillard Claire, Mention Karine, Dobbelaere Dries, Wemeau Jean-Louis, Saudubray Jean-Marie, Vantyghem Marie-Christine   +5 more
doaj   +1 more source

Aerobic growth of Rhodococcus aetherivorans BCP1 using selected naphthenic acids as the sole carbon and energy sources [PDF]

, 2018
Naphthenic acids (NAs) are an important group of toxic organic compounds naturally occurring in hydrocarbon deposits. This work shows that Rhodococcus aetherivorans BCP1 cells not only utilize a mixture of eight different NAs (8XNAs) for growth but they ...
Cappelletti M., Crognale S., Demeter M. A., Fedi S., Ferreri C., Milazzo G., Petruccioli M., Piacenza E., Presentato A., Sansone A., Steinbuchel A., Turner R. J., Zannoni D.   +12 more
core   +2 more sources

User-Loaded SlipChip for Equipment-Free Multiplexed Nanoliter-Scale Experiments [PDF]

, 2010
This paper describes a microfluidic approach to perform multiplexed nanoliter-scale experiments by combining a sample with multiple different reagents, each at multiple mixing ratios. This approach employs a user-loaded, equipment-free SlipChip.
Du, Wenbin, Ismagilov, Rustem, Li, Liang
core  

Teaching Neuro Images : Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency) [PDF]

Neurology, 2011
A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. …
Paramdeep, Singh, Jatinder Singh, Goraya, Archana, Ahluwalia, Kavita, Saggar   +3 more
openaire   +2 more sources

Unravelling the biochemical aspects of the interaction between ticks and Leishmania using a tick cell line

Medical and Veterinary Entomology, EarlyView.
Leishmania infantum propagated in IDE8 tick cell line in vitro. L. infantum reduces tick cell viability and induces reactive oxygen species production. Lipidic profile of IDE8 tick cell line is altered during Leishmania infection. Abstract Leishmaniasis comprises a group of vector‐borne neglected tropical diseases caused by species of the obligatory ...
Beatriz Filgueiras Silvestre, Karoline dos Anjos Lima, Fernanda de Paula Pepino, Daniela Cosentino‐Gomes, Adivaldo Fonseca, Lesley Bell‐Sakyi, Georgia Correa Atella, Lucia H. Pinto‐da‐Silva   +7 more
wiley   +1 more source

Mechanisms of triglyceride-lowering effect of an HMG-CoA reductase inhibitor in a hypertriglyceridemic animal model, the Zucker obese rat.

Journal of Lipid Research, 1992
Inhibitors of 3-hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA) reductase have been approved for treatment of hypercholesterolemia in humans. This class of therapeutic agents, in addition to lowering plasma cholesterol, reduces plasma triglyceride levels.
SE Kasim, RC LeBoeuf, S Khilnani, L Tallapaka, D Dayananda, KL Jen   +5 more
doaj   +1 more source

On the enzymatic mechanism of 2-hydroxyisocaproyl-CoA dehydratase from Clostridium difficile [PDF]

, 2004
Die Gene ldhA und hadA aus Clostridium difficile (DSMZ 1296T) wurden kloniert und in Escherichia coli exprimiert. Die erhaltenen Proteine wurden gereinigt und als D-2-Hydroxyisocaproat-Dehydrogenase (LdhA) und 2-Hydroxyisocaproat-CoA-Transferase (HadA)
Buckel Wolfgang (Prof. Dr.), Kim Ji-Hoe
core   +1 more source