Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

No abstract is available for this paper.

• Publication year

  1962

• Venue

  Archives of Disease in Childhood

• Publication date

  1962-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1136/adc.37.195.505PMID 14018926PMCID PMC2012909
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [CONGENITAL GALACTOSEMIA].

  1964cited by this paper
• Cystathioninuria

  1963cited by this paper
• A familial disturbance of histidine metabolism.

  1961cited by this paper
• [Phenylpyruvic oligophrenia or phenylketonuria].

  1961cited by this paper
• Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I.

  1961cited by this paper
• Indole Metabolism in Mental Illness

  1961cited by this paper
• The metabolic disorder in Hartnup disease.

  1960cited by this paper
• [Aminoacidemia and aminoacidura during the menstrual cycle in the normal woman].

  1960cited by this paper
• Indicanuria in phenylketonuria.

  1960cited by this paper
• Aminoacidémie et aminoacidurie au cours du cycle menstruel chez la femme normale

  1960cited by this paper
• “Maple Syrup Urine Disease”

  1959cited by this paper
• Phenylpyruvic oligophrenia.

  1959cited by this paper
• The nature of the defect in tyrosine metabolism in alcaptonuria.

  1958cited by this paper
• [Differentiation of proteins & acid mucopolysaccharide on paper by means of combined specific staining].

  1958cited by this paper
• A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

  1958cited by this paper
• Some disturbances of erythrocyte metabolism in galactosaemia.

  1956cited by this paper
• Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.

  1956cited by this paper
• Congenital galactosemia, a single enzymatic block in galactose metabolism.

  1956cited by this paper
• A Case of Congenital Cirrhosis of the Liver with Renal Tubular Defects Akin to Those in the Fanconi Syndrome

  1956cited by this paper
• Le Debit Urinaire D’histidine au Cours du Cycle Menstruel Normal

  1954cited by this paper
• [Urinary excretion of histidine during normal menstrual cycle].

  1954cited by this paper
• Phenylpyruvic oligophrenia (phenylketonuria).

  1954cited by this paper
• Phenylpyruvic oligophrenia (phenylketonuria).

  1954cited by this paper
• Cystine Storage Disease with Aminoaciduria and Dwarfism (Lignac‐Fanconi Disease)

  1953cited by this paper
• The nature of the renal lesion in the Fanconi syndrome.

  1953cited by this paper
• CLINICAL DESCRIPTION, FACTUAL ANALYSIS, PROGNOSIS AND TREATMENT OF LIGNAC‐FANCONI DISEASE

  1952cited by this paper
• Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

  1952cited by this paper
• Phenylpyruvic oligophrenia.

  1951cited by this paper
• An apparatus for the simultaneous production of many two-dimensional paper chromatograms.

  1950cited by this paper
• A study of the behaviour of some sixty amino-acids and other ninhydrin-reacting substances on phenol-;collidine' filter-paper chromatograms, with notes as to the occurrence of some of them in biological fluids.

  1948cited by this paper
• Mechanisms of aminoaciduria.

  1947cited by this paper
• Mechanisms of aminoaciduria.

  1947cited by this paper
• CHEMICAL AND METABOLIC STUDIES ON PHENYLALANINE

  1940cited by this paper
• INHERITANCE OF PHENYLPYRUVIC AMENTIA (PHENYLKETONURIA)

  1935cited by this paper
• Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität.

  1934cited by this paper
• CYSTINURIA THE EXCRETION OF A CYSTINE COMPLEX WHICH DECOMPOSES IN THE URINE WITH THE LIBERATION OF FREE CYSTINE

  1930cited by this paper
• A Rare Disease in Two Brothers

  1917cited by this paper
• The Croonian Lectures ON INBORN ERRORS OF METABOLISM.

  1908cited by this paper

• The disease‐linked R336C mutation in cystathionine β‐synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity

  2025cites this paper
• Homocysteine in the Cardiovascular Setting: What to Know, What to Do, and What Not to Do

  2025cites this paper
• Role of hyperhomocysteinemia in atherosclerosis: from bench to bedside

  2025cites this paper
• The Influence of the Cooperation of Hyperhomocysteinemia and Arterial Hypertension. A Risk Factor on the Acceleration of the Progress of Chronic Renal Diseases

  2024cites this paper
• Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

  2024cites this paper
• Hyperhomocysteinemia and Accelerated Aging: The Pathogenic Role of Increased Homocysteine in Atherosclerosis, Osteoporosis, and Neurodegeneration

  2023cites this paper
• Resolving Geroplasticity to the Balance of Rejuvenins and Geriatrins

  2022cites this paper
• Recent advances in application of metal-organic frameworks (MOFs) as adsorbent and catalyst in removal of persistent organic pollutants (POPs).

  2022cites this paper
• Homocystinuria: a commentary

  2022cites this paper
• Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report

  2022cites this paper
• Early Development of Newborn Screening for HCU and Current Challenges

  2021cites this paper
• Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

  2020cites this paper
• Subclavian Vein Thrombosis Revealing Hyperhomocysteinemia : Case Report And Review of Literature

  2020cites this paper
• The Spectrum of Mutations of Homocystinuria in the MENA Region

  2020cites this paper
• Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

  2020cites this paper
• Plasma Homocysteine and Vascular Disease

  2020cites this paper
• La deficiencia de ácido fólico en la población venezolana: ¿un ejemplo de mala praxis en salud pública?

  2020cites this paper
• Homocysteine and Related B Vitamins in Pre-diabetes and Diabetes Mellitus

  2020cites this paper
• The chronological evolution of small organic molecular fluorescent probes for thiols

  2020cites this paper
• Hyperhomocystéinémie : facteur de risque de thrombose veineuse ?

  2019cites this paper
• Revising the Psychiatric Phenotype of Homocystinuria

  2019cites this paper
• Protein Covalent Modification by Homocysteine: Consequences and Clinical Implications

  2019cites this paper
• Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland

  2019cites this paper
• Homocysteine in Occlusive Vascular Disease

  2018cites this paper
• FREQUENCY OF HYPERHOMOCYSTEINEMIA AND ITS PROGNOSTIC OUTCOME IN FIRST-EVER ACUTE STROKE PATIENTS AS SEEN IN THE UNIVERSITY OF BENIN TEACHING HOSPITAL

  2018cites this paper
• A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

  2018cites this paper
• A study of serum homocysteine levels during normal pregnancy and preeclampsia

  2018cites this paper
• The Role Of Putative Nox Inhibitors In Homocysteine-Induced Vascular Dysfunction

  2018cites this paper
• Mammalian Sulfur Amino Acid Metabolism: A Nexus Between Redox Regulation, Nutrition, Epigenetics, and Detoxification

  2018cites this paper
• Homocysteine: Discovery and Metabolism

  2018cites this paper
• Hyperhomocysteinemia: How Does it Affect the Development of Cardiovascular Disease?

  2018cites this paper
• Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

  2018cites this paper
• Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.

  2018cites this paper
• Effect of Smoking Index on Cardiovascular System in Some Libyans

  2017cites this paper
• Establishment of an analytical method for accurate purity evaluations of acylcarnitines by using quantitative 1H NMR spectroscopy

  2017cites this paper
• Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip.

  2017cites this paper
• The Relationship between Homocysteine and Fragility Fractures - A Systematic Review

  2017cites this paper
• Therapeutic targets in homocystinuria due to cystathionine β-synthase deficiency: new European guidelines

  2017cites this paper
• A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report

  2016cites this paper
• Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

  2016cites this paper
• Vein graft disease in a knockout mouse model of hyperhomocysteinaemia

  2016cites this paper
• Bilateral Central Retinal Artery Occlusion in Homocystinuria

  2016cites this paper
• Homocysteine levels in schizophrenia patients newly admitted to an acute psychiatric ward

  2015cites this paper
• Homocysteine Metabolism, Atherosclerosis, and Diseases of Aging.

  2015cites this paper
• Homocystinuria: Diagnosis and Management

  2015cites this paper
• Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

  2015cites this paper
• Homocysteine: A Controversial Cardiovascular Risk Factor

  2015cites this paper
• Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients

  2015cites this paper
• Conséquences d’une carence en donneurs de méthyles sur la différenciation neuronale et la plasticité : influence d’une supplémentation périnatale sur le développement cérébral

  2015cites this paper
• Homocysteine and the pathogenesis of atherosclerosis

  2015cites this paper
• 18 – Genetic Basis of Stroke Occurrence, Prevention and Outcome

  2015cites this paper
• Dimethylmethylene blue: a tool for MPS screening

  2015cites this paper
• Chapter 7 Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX 2 and peri-nuclear NOX 4 activity

  2014cites this paper
• Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics

  2014cites this paper
• The genetic associations of rhegmatogenous retinal detachment and ectopia lentis

  2014cites this paper
• Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.

  2014cites this paper
• A forgotten lethal psychosis: a case report

  2014cites this paper
• Hyperhomocysteinemia as a risk factor for the neuronal system disorders.

  2014cites this paper
• The impact of homocysteine and B vitamins on Alzheimer’s disease, cognitive performance and structural brain changes

  2013cites this paper
• Estudio de los niveles plasmáticos de homocisteína, ácido fólico y vitamina B-12 en una población limeña de jóvenes adultos

  2013cites this paper
• Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia.

  2013cites this paper
• Conséquences d'une carence en donneurs de méthyles sur le développement cérébral : implication du programme neurogénique et rôle de l'homocystéine

  2013cites this paper
• A focus on homocysteine in autism.

  2013cites this paper
• Hiperhomocisteinemia/homocisteinuria como factor de riesgo cardiovascular en niños y adolescentes

  2013cites this paper
• 2 Hyperhomocysteinemia : Relation to Cardiovascular Disease and Venous Thromboembolism

  2012cites this paper
• Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease

  2012cites this paper
• Elevated plasma homocysteine in type 2 diabetes mellitus: a risk factor for cardiovascular diseases

  2012cites this paper
• Liver transplantation for a patient with homocystinuria

  2012cites this paper
• Betaine treatment of cystathionine β-synthase-deficient homocystinuria; does it work and can it be improved?

  2012cites this paper
• Protéine C réactive, homocystéine et risque cardiovasculaire

  2012cites this paper
• A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

  2012cites this paper
• Global Developmental Delay and Mental Retardation/Intellectual Disability

  2012cites this paper
• Hyperhomocysteinemia: Relation to Cardiovascular Disease and Venous Thromboembolism

  2012cites this paper
• Homocystein und esRAGE bei Pseudoexfoliation und altersbedingter Makuladegeneration

  2012cites this paper
• Homocystinuria and oral health. A report of 14 cases.

  2012cites this paper
• Homocyst(e)ine and Coronary Heart Disease

  2012cites this paper
• Relationship between paraoxonase and homocysteine: crossroads of oxidative diseases

  2012cites this paper
• Mechanisms of Cardiovascular Remodeling in Hyperhomocysteinemia

  2011cites this paper
• 18 – Stroke Genetics

  2011cites this paper
• Genetic and epigenetic aspects in cardio-vascular disease and ageing

  2011cites this paper
• Homocysteine and Cardiac Neural Crest Cell Cytoskeletal Proteins in the Chick Embryo

  2011cites this paper
• Cardiac Injury, Atherosclerosis, and Thrombotic Disease

  2011cites this paper
• Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity

  2011cites this paper
• Approach to mental retardation and global developmental delay.

  2011cites this paper
• Association of angiotensin-converting enzyme, methylene tetrahydrofolate reductase and paraoxonase gene polymorphism and coronary artery disease in an Indian population.

  2011cites this paper
• A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

  2010cites this paper
• Thrombophilie und ihre Bedeutung für Abort und venöse Thrombembolie in der Schwangerschaft

  2010cites this paper
• Einfluss des Homocystein-Stoffwechsels auf neurodegenerative Erkrankungen: Homocystein- und Methylierungsstatus bei Patienten mit Morbus Parkinson

  2010cites this paper
• Oral administration of L-serine reduces the locomotor activity of socially isolated rats.

  2010cites this paper
• Fenofibrate, homocysteine and renal function.

  2010cites this paper
• Effect of Experimental Hyperhomocysteinemia on Brain Methylation and Neurodegenerative Markers in Rats

  2010cites this paper
• Homocystéinémie, apports en vitamines B et facteurs de risque cardiométabolique Au Bénin, Afrique

  2010cites this paper
• Prevalence of classical phenylketonuria in mentally retarded individuals in Iran

  2009cites this paper
• Homocysteine and cardiovascular risk

  2009cites this paper
• Plasma homocysteine as a cardiovascular risk factor: causal, consequential, or of no consequence?

  2009cites this paper
• Diagnosis of inherited thrombophilia in pediatrics.

  2009cites this paper
• Conséquences d'une carence en donneurs de méthyles sur la différenciation cellulaire, la survie et la neuroplasticité : approches mécanistiques in vitro sur des lignées neuronales

  2009cites this paper
• Homocisteína e a doença cardiovascular

  2009cites this paper
• Vascular mechanisms in dementia with special reference to folate and fibrinolysis

  2009cites this paper
• Disorders of Purine, Sphingolipid, and Amino Acid Metabolism

  2009cites this paper