Results 111 to 120 of about 12,812 (223)

Acute pancreatitis in a patient with glutaric acidemia type II

The Turkish Journal of Pediatrics, 1997
We describe a two-year-old girl who presented with coma following an upper respiratory tract infection. Nonketotic hypoglycemia, metabolic acidosis and mild hyperammonemia were detected.
T Coşkun, S Göğüş, Z Akçören, A Tokatli, I Ozalp   +4 more
doaj  

Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy

Metabolites
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia/glutaric aciduria type II (GA II), is an inborn error of fatty acid, amino acid, and choline metabolism.
Matthew A. Shear, Allie LaTray, Irene J. Chang, Annalisa Post, Renata C. Gallagher   +4 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

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

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  

Inherited metabolic disorders in Cyprus

Molecular Genetics and Metabolism Reports
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%).
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou   +17 more
doaj   +1 more source

Parental views on informed consent for expanded newborn screening [PDF]

, 2013
Background  An increasing array of rare inherited conditions can be detected as part of the universal newborn screening programme. The introduction and evaluation of these service developments require consideration of the ethical issues involved and ...
Arnold, Autti-Ramo, Bailey, Bijarnia, Braun, Chadwick, Chrastina, Cooke, Davey, Davis, den Boer, Detmar, Detmar, El-Wakeel, Hargreaves, Helgesson, Helgesson, Junghans, Kemper, Levy, Liebl, O’Neill, Pollitt, Ponder, Rogers, Stewart, Tarini, Vockley, Wilson, Østerlie   +29 more
core   +1 more source

Fatal cervical myelopathy in a child with glutaric aciduria type 1

Journal of Inherited Metabolic Disease
We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous ...
Eline Chauvet, Diana Ribeiro, Ilse Kern, J. Fluss   +3 more
semanticscholar   +1 more source

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