Published in An Pediatr (Barc) on December 16, 2009
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal (2011) 1.08
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis (2012) 0.99
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy (2014) 0.89
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int (2016) 0.83
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. J Inherit Metab Dis (2008) 2.46
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. N Engl J Med (1996) 2.38
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology (2006) 2.19
Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol (1995) 2.04
Total homocysteine in patients with type 1 diabetes. Diabetes Care (2000) 2.04
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol (2000) 2.01
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology (1995) 1.97
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet (2001) 1.95
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum Mol Genet (1995) 1.68
Serum homocysteine level and protein intake are related to risk of microalbuminuria: the Hoorn Study. Kidney Int (1998) 1.56
Study of the localization of iron, ferritin, and hemosiderin in Alzheimer's disease hippocampus by analytical microscopy at the subcellular level. J Struct Biol (2005) 1.55
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis (1990) 1.55
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation. J Med Genet (2004) 1.53
Homocysteine and the MTHFR 677C-->T allele in premature coronary artery disease. Case control and family studies. Eur J Clin Invest (2001) 1.52
Ubiquitin in cerebral amyloid angiopathy. J Neurol Sci (1992) 1.50
Abnormal synaptic protein expression in two Arabian horses with equine degenerative myeloencephalopathy. Vet J (2003) 1.50
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet (1997) 1.50
Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol (1998) 1.49
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48
Widespread changes in dendritic spines in a model of Alzheimer's disease. Cereb Cortex (2008) 1.46
Hyperhomocysteinemia increases risk of death, especially in type 2 diabetes : 5-year follow-up of the Hoorn Study. Circulation (2000) 1.46
Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet (1999) 1.42
Hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study. Arterioscler Thromb Vasc Biol (1998) 1.42
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis (2006) 1.42
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom (1990) 1.41
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis (2007) 1.41
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis (1993) 1.40
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta (1987) 1.39
Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr (1993) 1.39
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics (1998) 1.37
Immunological characterization of a neuronal antibody (anti-Tr) associated with paraneoplastic cerebellar degeneration and Hodgkin's disease. J Neuroimmunol (1997) 1.35
The development of parvalbumin-immunoreactivity in the neocortex of the mouse. Brain Res Dev Brain Res (1994) 1.33
Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem (1995) 1.30
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta (1991) 1.29
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet (2001) 1.28
Decreased numbers of dendritic spines on cortical pyramidal neurons in dementia. A quantitative Golgi study on biopsy samples. Hum Neurobiol (1988) 1.28
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics (2005) 1.27
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. J Inherit Metab Dis (2007) 1.27
5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors. Neth J Med (2008) 1.25
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis (2007) 1.25
Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis. Neurology (2009) 1.25
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res (2000) 1.25
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem (1995) 1.24
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet (2001) 1.24
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology (2009) 1.23
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol (2001) 1.22
Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry. Clin Chem (2000) 1.22
Pretreatment methods to improve sludge anaerobic degradability: a review. J Hazard Mater (2010) 1.22
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A (2005) 1.21
Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta (1981) 1.19
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. J Med Genet (2008) 1.17
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab (2004) 1.17
Phosphorylation of tau and alpha-synuclein in synaptic-enriched fractions of the frontal cortex in Alzheimer's disease, and in Parkinson's disease and related alpha-synucleinopathies. Neuroscience (2008) 1.16
Differential distribution of apolipoprotein E isoforms in human plasma lipoproteins. Arteriosclerosis (1989) 1.16
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet (1989) 1.15
Glutaric aciduria type I: pathomechanisms of neurodegeneration. J Inherit Metab Dis (1999) 1.14
Towards a method for automated classification of 1H MRS spectra from brain tumours. NMR Biomed (1998) 1.14
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol Genet Metab (2001) 1.14
Increased plasma homocysteine after menopause. Atherosclerosis (2000) 1.14
X-linked creatine transporter defect: an overview. J Inherit Metab Dis (2003) 1.12
Identification of necrotic cell death by the TUNEL assay in the hypoxic-ischemic neonatal rat brain. Neurosci Lett (1997) 1.12
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol (2000) 1.11
Characterization of a double (amyloid precursor protein-tau) transgenic: tau phosphorylation and aggregation. Neuroscience (2005) 1.10
Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol (1993) 1.10
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int (2007) 1.08
5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism. Anal Biochem (2004) 1.08
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis (2009) 1.08
Apple juice, fructose, and chronic nonspecific diarrhoea. Eur J Pediatr (1989) 1.08
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.08
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. J Lipid Res (1998) 1.07
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat (1999) 1.07
How a neuropsychiatric brain bank should be run: a consensus paper of Brainnet Europe II. J Neural Transm (Vienna) (2006) 1.07
Analysis of pipecolic acid in biological fluids using capillary gas chromatography with electron-capture detection and [2H11]pipecolic acid as internal standard. J Chromatogr (1992) 1.06
Serum homocysteine and risk of coronary heart disease and cerebrovascular disease in elderly men: a 10-year follow-up. Arterioscler Thromb Vasc Biol (1998) 1.06
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol (1999) 1.06
Meige syndrome: neuropathology of a case. Mov Disord (1988) 1.05
Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr Res (1999) 1.05
T cells from baxalpha transgenic mice show accelerated apoptosis in response to stimuli but do not show restored DNA damage-induced cell death in the absence of p53. EMBO J (1996) 1.05
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life (2005) 1.05
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr (1992) 1.04
Human metabolism of phytanic acid and pristanic acid. Prog Lipid Res (2001) 1.04
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Pediatr Res (1996) 1.04
Abnormal synaptic protein expression and cell death in murine scrapie. Acta Neuropathol (2002) 1.04
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency. J Inherit Metab Dis (2005) 1.04
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol Dis (2004) 1.04
Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome. Arch Dis Child (1996) 1.03
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet (1998) 1.03
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet (2000) 1.03
Lysosome-associated membrane protein 1 (LAMP-1) in Alzheimer's disease. Neuropathol Appl Neurobiol (2006) 1.03
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res (1992) 1.02
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. J Biol Chem (1997) 1.02