Coughlin CR 2nd

Latest

• Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
• Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy
• A case for newborn screening for pyridoxine-dependent epilepsy
• Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
• Clinical Reasoning: Pediatric Seizures of Unknown Cause
• Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
• Defining the critical components of informed consent for genetic testing.
• Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
• Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
• Application of a framework to guide genetic testing communication across clinical indications
• Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation
• Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
• Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
• Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
• Developing interactions with industry in rare diseases: lessons learned and continuing challenges
• Genetic Testing: Consent and Result Disclosure for Primary Care Providers.
• Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
• Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
• Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
• The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
• X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
• Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
• The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
• Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
• Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
• Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
• Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
• Clinical and biochemical characterization of four patients with mutations in ECHS1
• Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
• Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
• Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
• An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
• Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency
• Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
• Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
• Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
• Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
• Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
• Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
• Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
• Child neurology: a case illustrating the role of imaging in evaluation of sudden infant death
• Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children