NONKETOTIC HYPERGLYCINEMIA : BIOCHEMICAL, MOLECULAR, AND NEUROLOGICAL ASPECTS

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Genotyping of Single Nucleotide Polymorphisms (SNPs) Influencing Drug Response by Competitive Allele-specific Short Oligonucleotide Hybridization (CASSOH) with Immunochromatographic Strip
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
Unique Histopathological Features of a Familial Dilated Cardiomyopathy with Conduction Defect Caused by a Lamin A/C Gene Mutation
FRS-040 Unique Arrhythmogenesis of a Familial Dilated Cardiomyopathy with Conduction Defect Caused by a Lamin A/C Gene Mutation(Arrhythmia-Clinical : Advances in Diagnosis and Management (A) : FRS5)(Featured Research Session (English))
Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
Neonatal-Onset Brainstem Reticular Reflex Myoclonus Following a Prenatal Brain Insult : Generalized Myoclonic Jerk and a Brainstem Lesion
Clinical characterization of familial dilated cardiomyopathy with conduction defect caused by a novel lamin A/C gene mutation
Molecular analysis of methylmalonyl-CoA mutase deficiency : identification of three missense mutations in mut^0 patients
Nonketotic hyperglycinemia: Pathophysiological studies
Founders of Child Neurology in Japan - Keiya Tada
NONKETOTIC HYPERGLYCINEMIA : BIOCHEMICAL, MOLECULAR, AND NEUROLOGICAL ASPECTS
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Two Novel Mutations in the Lactase Gene in a Japanese Infant with Congenital Lactase Deficiency
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
Linkage and association of childhood asthma with the chromosome 12 genes
Panax Ginseng : A Newly Identified Cause of Gynecomastia
Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia
Human Herpes Virus Type 6 Can Cause Skin Lesions at the BCG Inoculation Site Similar to Kawasaki Disease
Utility of Thallium-201 Scintigraphy in Tolosa-Hunt Syndrome
Valproic Acid Exacerbated Infantile Spasms and Induced Novel Complex Partial Seizures in an Infant with Non-ketotic Hyperglycinemia
Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency
Successful treatment with rituximab of an infant with refractory autoimmune hemolytic anemia

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