Cargando…

Fatal cerebral edema associated with serine deficiency in CSF

Two young girls without a notable medical history except for asthma presented with an acute toxic encephalopathy with very low serine concentrations both in plasma and cerebrospinal fluid (CSF) comparable to patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency. Clinical symptoms and en...

Descripción completa

Detalles Bibliográficos
Autores principales:	Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, de Koning, Tom J., Verhoeven-Duif, Nanda M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2010
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757259/ https://www.ncbi.nlm.nih.gov/pubmed/20300853 http://dx.doi.org/10.1007/s10545-010-9067-9

Ejemplares similares

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
por: Tabatabaie, L., et al.
Publicado: (2010)

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma
por: Olde Loohuis, Loes M., et al.
Publicado: (2018)

Inborn errors of enzymes in glutamate metabolism
por: Rumping, Lynne, et al.
Publicado: (2019)

Inborn disorders of the malate aspartate shuttle
por: Broeks, Melissa H., et al.
Publicado: (2021)

From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia
por: Timmers, Inge, et al.
Publicado: (2012)

Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
por: Haijes, Hanneke A., et al.
Publicado: (2019)

Fatal Cerebral Edema in a Child With COVID-19
por: Kim, Michael G., et al.
Publicado: (2021)

Focal epilepsy with fear‐related behavior as primary presentation in Boerboel dogs
por: Stassen, Quirine E. M., et al.
Publicado: (2018)

Temporal Characteristics of Online Syntactic Sentence Planning: An Event-Related Potential Study
por: Timmers, Inge, et al.
Publicado: (2013)

The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model
por: Albersen, Monique, et al.
Publicado: (2013)

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
por: van Erven, Britt, et al.
Publicado: (2017)

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics
por: Haijes, Hanneke A., et al.
Publicado: (2019)

Sweet and sour: an update on classic galactosemia
por: Coelho, Ana I., et al.
Publicado: (2017)

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
por: Haijes, H.A., et al.
Publicado: (2019)

Neuroimaging features of fatal high-altitude cerebral edema
por: Medhi, Gorky, et al.
Publicado: (2018)

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
por: Korteling, Dorinde, et al.
Publicado: (2022)

ATM Serine/Threonine Kinase and its Role in Pancreatic Risk
por: Nanda, Neha, et al.
Publicado: (2020)

Current and Future Treatments for Classic Galactosemia
por: Delnoy, Britt, et al.
Publicado: (2021)

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging
por: Timmers, Inge, et al.
Publicado: (2014)

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
por: Haijes, H. A., et al.
Publicado: (2020)

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children
por: Albersen, Monique, et al.
Publicado: (2015)

Interactions of brain, blood, and CSF: a novel mathematical model of cerebral edema
por: Doron, Omer, et al.
Publicado: (2021)

Fatal diving: could it be an immersion pulmonary edema? Case report
por: Evain, France, et al.
Publicado: (2022)

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions
por: Timmers, Inge, et al.
Publicado: (2011)

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
por: van Dooijeweert, Birgit, et al.
Publicado: (2020)

Postobstructive pulmonary edema: A fatal complication in suicidal near-hanging
por: Mesrati, Mohamed Amin, et al.
Publicado: (2020)

Fatal Pediatric COVID-19 Case With Seizures and Fulminant Cerebral Edema
por: Ninan, Siddharth, et al.
Publicado: (2021)

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
por: Touw, Catharina M L, et al.
Publicado: (2012)

Development of tools to facilitate the diagnosis of hereditary fructose intolerance
por: Panis, Bianca, et al.
Publicado: (2023)

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia
por: van Dooijeweert, Birgit, et al.
Publicado: (2021)

The challenges of classical galactosemia: HRQoL in pediatric and adult patients
por: Hermans, Merel E., et al.
Publicado: (2023)

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm
por: Haijes, Hanneke A., et al.
Publicado: (2020)

CSF protein biomarkers predicting longitudinal reduction of CSF β-amyloid42 in cognitively healthy elders
por: Mattsson, N, et al.
Publicado: (2013)

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
por: Haskovic, M., et al.
Publicado: (2018)

Fatal Cerebral Edema in a Young Adult with Diabetic Ketoacidosis: Blame the Bicarbonate?
por: Natarajan, Sameera, et al.
Publicado: (2020)

Fatal Hashimoto encephalopathy presenting with acute fulminant cerebral edema in a child
por: Garg, Meenal, et al.
Publicado: (2023)

FSH isoform pattern in classic galactosemia
por: Gubbels, Cynthia S., et al.
Publicado: (2010)

Assessing Microstructural Substrates of White Matter Abnormalities: A Comparative Study Using DTI and NODDI
por: Timmers, Inge, et al.
Publicado: (2016)

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma
por: Haijes, Hanneke A., et al.
Publicado: (2019)

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity
por: van Dooijeweert, Birgit, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_qf7vdrbe2v0ig0pke76b2o38vl