Results 111 to 120 of about 4,483 (224)

Heparan Sulfate Mediates Neuroprotection from Degeneration in Experimental Glutaric Aciduria

Cell Transplantation, 2007
Glutaric aciduria type 1 (GA1) is a childhood metabolic disorder associated with crises that lead to striatal necrosis. Although the disorder can be controlled with diet, there is no current treatment to ameliorate the neurodegeneration following a ...
Michelle C. Naylor, Mesfin Negia, Meredith Noetzel, Terry C. Burns, Zach L. Demorest, Walter C. Low Ph.D.   +5 more
doaj   +1 more source

Ketotic Hypoglycaemia Following Sleeve Gastrectomy

Clinical Endocrinology, Volume 103, Issue 1, Page 45-49, July 2025.
ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He, Liza Phillips, Janelle Nisbet, Adam Morton   +3 more
wiley   +1 more source

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum

Global Medical Genetics
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-onset GA-1 with acute myelo-neuropathy and chronic renal failure.
Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil   +15 more
doaj   +1 more source

Diagnosis and management of glutaric aciduria type I – revised recommendations [PDF]

, 2011
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury
A Boneh, A Cerisola, A Laich, A MacDonald, AA Basinger, AA Monavari, AAM Morris, Alberto B. Burlina, Alessandro P. Burlina, AM Krstulovic, Angels García Cazorla, AP Burlina, Avihu Boneh, AW Elster, B Wilcken, Bridget Wilcken, C Busquets, C Gitiaux, C Mellerio, C Mühlhausen, Cheryl R. Greenberg, Chris Mühlhausen, CR Greenberg, CR Greenberg, D Wert, David M. Koeller, DEM Francis, DH Chace, DH Morton, DW Seccombe, E Christensen, E Christensen, E Monbaliu, E Müller, E Neumaier-Probst, EA Crombez, Edith Müller, EL Twomey, EP Treacy, ER Naughten, Ernst Christensen, G Huner, G Rakocevic, Georg F. Hoffmann, GF Hoffmann, GF Hoffmann, I Baric, I Harting, J Brismar, J Heringer, J Rice, J Woelfle, J Zschocke, James V. Leonard, JB Hennermann, JC Haworth, JF Martinez-Lage, JH Walter, JH Walter, JK Hald, Jürgen G. Okun, KA Strauss, KA Strauss, KB Bjugstad, KG Dewey, KK Oguz, LM Hartley, M Dixon, M Kyllerman, M Kyllerman, M Köhler, M Lindner, M Lindner, M Nasser, M Rijn Van, Marinus Duran, Marjorie Dixon, MH Beauchamp, MJ Barry, MJ Thomason, MS Watson, Mårten Kyllerman, N Napolitano, NJ Brandt, NK Desai, O Bähr, OY Al-Dirbashi, P Garcia, Peter Burgard, PH Lipkin, R Forstner, RA Chalmers, RC Gallagher, RJ Pollitt, S Bijarnia, S Kölker, S Kölker, S Kölker, S Külkens, S Tortorelli, S Yannicelli, SI Goodman, SI Goodman, SK Lin, Stefan Kölker, Stephen I. Goodman, SW Sauer, TD Sanger, V Lütcherath, V Prietsch, VM McClelland, WE Smith, WJ Zinnanti, World Health Organization, Y Shigematsu, Z Fu, ZA Jamjoom   +116 more
core   +3 more sources

Response to Comment on 26 cm Fall Caught on Video Causing Subdural Hemorrhages and Extensive Retinal Hemorrhages in an 8‐Month‐Old Infant

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Chris Brook, Waney Squier, Julie Mack
wiley   +1 more source

The genetic basis of DOORS syndrome: an exome-sequencing study. [PDF]

, 2014
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause.
Aftimos, S, Banka, S, Begleiter, ML, Bhaskar, SS, Blair, E, Burrage, LC, Campeau, PM, Cheung, SW, De Bie, I, Dickerson, JE, Félix, TM, Gibbs, RA, Giltay, JC, Giuliano, F, Golabi, M, Hennekam, RC, Hori, M, Kariminejad, A, Kasperaviciute, D, Kayserili, H, Kerr, B, Kim, C, Lee, BH, Lu, JT, Male, A, Meenakshi, G, Mey, A, Murray, ML, Nair, LD, Nampoothiri, S, Newman, WG, Powell, BR, Repetto, GM, Rump, P, Sisodiya, SM, Stewart, F, Tostevin, A, van den Ende, J, Wieczorek, D, Wisniewska, M, Wiszniewska, J   +40 more
core  

Genetic basis of hyperlysinemia [PDF]

, 2013
Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported.
Augoustides-Savvopoulou, P. (Persa), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Denis, S. (Simone), Duran, M. (Marinus), Houten, S.M. (Sander M.), Häberle, J. (Johannes), Klerk, J.B.C. (Johannes) de, Knegt, A.C. (Alida), Poll-The, B.T., Ruiter, J.P.N. (Jos), Sass, J.O. (Jörn Oliver), Te Brinke, H. (Heleen), Wanders, R.J.A. (Ronald), Zschocke, J. (Johannes)   +14 more
core   +1 more source

Citrobacter freundii infection in glutaric aciduria type 1

Journal of Postgraduate Medicine, 2008
Glutaric aciduria type 1 (GA1) is an inborn error of organic acid metabolism, where the brain is the principal organ affected with exposure to toxic metabolic product, 3-hydroxyglutaric acid (3-OHGA). A 2-year-old boy with GA1 and delayed developmental milestones had an acute neurological crisis leading to massive brain ...
Mukhopadhyay, C., Dey, A., Bairy, I.
openaire   +2 more sources

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, Volume 12, Issue 9, Page 1421-1424, September 2025.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS [PDF]

, 2021
Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life.
Bulut, D, Ceylaner, G, Incecik, F, Kılavuz, S, Kor, D, Onan, B, Önenli-Mungan, N, Özcan, N, Şeker-Yılmaz, B   +8 more
core