Results 21 to 30 of about 1,288 (135)

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Severe Megaloblastic Anaemia in an Infant [PDF]

, 2011
Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia.
Brito, MJ, Cordeiro Ferreira, G, Dias, A, Galvão, I, Rodrigues, V   +4 more
core   +2 more sources

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Heliyon
Dihydroorotate dehydrogenase (DHODH) catalyzes the fourth enzymatic reaction of the pyrimidine biosynthesis pathway. Miller syndrome, also known as postaxial acrofacial dysostosis, is caused by biallelic pathogenic variants in DHODH. We present a patient
Inger-Lise Mero, Juan Manuel Orozco Rodriguez, Kathrine Bjørgo, Renee Alexandra Hankin, Ewa Krupinska, Mari Ann Kulseth, Marvin Anthony Rossow, Wolfgang Knecht   +7 more
doaj   +1 more source

Nephrolithiasis related to inborn metabolic diseases [PDF]

, 2009
Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with ...
A Pahari, AE Bobrowski, Aurélia Liutkus, B Shekarriz, Christine Saban, CJ Danpure, CS Woerden van, CY Pak, D Joly, DA Weinstein, DP Simpson, E Ristoff, G Berghe van den, G Rumsby, G Rumsby, GF Laube, GPA Smit, H Wong, JE Zerwekh, Jean-François Sabot, Justine Bacchetta, K Ichida, K Martens, L Dello Strologo, L Dello Strologo, Laurence Dubourg, M Boutros, M Brasseur-Daudry, M Daudon, M Daudon, MA Becker, Michel Daudon, N Blau, P Cochat, P Cochat, Pierre Cochat, RJ Torres, RJ Torres, S Brennan, S Kranen, SA Johnson, V Pietro Di, Valérie Pichault   +42 more
core   +2 more sources

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes [PDF]

, 2016
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities.
Abulhoul, L, Anderson, G, Beesley, C, Boustred, C, Broomfield, A, Clayton, PT, Cleary, M, Drury, S, Gissen, P, Grunewald, S, Jacques, TS, Lench, N, Mills, PB, Papandreou, A, Rahman, S, Reid, ES, Varadkar, SM, Wedatilake, Y, Yue, WW   +18 more
core   +2 more sources

Mapping an atlas of tissue-specific drosophila melanogaster metabolomes by high resolution mass spectrometry [PDF]

, 2013
Metabolomics can provide exciting insights into organismal function, but most work on simple models has focussed on the whole organism metabolome, so missing the contributions of individual tissues.
A Kamleh, A Malmendal, A Malmendal, AA Jackson, C Jeulin, David G. Watson, DG Watson, DJ Creek, Dominika Korzekwa, DT Sullivan, G Di Paolo, G Fraenkel, GJ Blomquist, GX Quan, H Colinet, J Andrews, J Overgaard, Jacob Guy Bundy, JD Feala, JE Treherne, JL Hubby, JS Park, Julian A. T. Dow, KS Pedersen, L Coquin, L Pan, L Zheng, M Carvalho, M Parisi, M Rera, MA Kamleh, MA Kamleh, MF Wolfner, MM Green, Mohammed Al Bratty, MS Elias, N Vereshchagina, NE Braverman, P Niewiadomska, PA Robitaille, PS Shekhawat, R Tearle, S Buch, S Reisse, V Kostal, Venkateswara R. Chintapalli, VR Chintapalli, VR Chintapalli   +47 more
core   +3 more sources

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

5'-nucleotidases, nucleosides and their distribution in the brain: pathological and therapeutic implications [PDF]

, 2013
Elements of the nucleoside system (nucleoside levels, 5'-nucleotidases (5'NTs) and other nucleoside metabolic enzymes, nucleoside transporters and nucleoside receptors) are unevenly distributed in the brain, suggesting that nucleosides have region ...
Dobolyi, Árpád, Juhász, Gábor, Kovács, Zsolt, Kékesi, Katalin A.   +3 more
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