cystine and Deficiency, Mental

cystine has been researched along with Deficiency, Mental in 29 studies

Research

Studies (29)

TimeframeStudies, this research(%)All Research%
pre-199024 (82.76)18.7374
1990's3 (10.34)18.2507
2000's1 (3.45)29.6817
2010's1 (3.45)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Hwang, JS; Kim, SH; Kim, YH; Lee, EH1
GORDON, N; WILSON, VK1
CARSON, NA; GIBSON, JB; NEILL, DW1
DAVIDSON, DT; STAMBAUGH, R1
Dailey, W; Drenser, KA; Fecko, A; Trese, MT1
Frimpter, GW; Fuchs, F; Greenberg, AJ; Hilgartner, M1
Carson, NA1
Arakawa, T; Hirono, H; Tada, K; Yoshida, T1
Arbisser, AI; Collie, WR; Fraustadt, U; Howell, RR; Ibarra, OC; Marshall, RN; Parsons, DS; Scott, CI1
Beemer, FA; Boom, BW; Kleijer, WJ1
Botzi, C; Bracun, R; Focke, M; Götz, M; Hemmer, W; Jarisch, R; Killian, W; Wolf-Abdolvahab, S1
Calvieri, S; Di Gregorio, L; Micali, G; Pavone, L; Rizzo, R1
Chapman, S1
Crawford, LE; Hansen, S; Love, DL; Perry, TL; Tischler, B1
Potter, JL; Silvidi, AA; Timmons, GD; West, R1
Crawhall, JC; Purkiss, P; Stanbury, JB1
Gröbe, H1
Iivanainen, M; Palo, J; Savolainen, H1
Antich, J; Ferre, C; Sabater, J1
Pollitt, RJ; Stonier, PD1
Hope, DB; Wälti, M1
Miura, R; Oyanagi, K; Yamanouchi, T1
Thier, SO1
Sinclair, S; Verma, IC1
Ampola, MG; Bixby, EM; Crawhall, JC; Efron, ML; Parker, R; Sneddon, W; Young, EP1
Gilder, SS1
Dolman, CL; Dunn, HG; Perry, TL1
Cusworth, DC; Komrower, GM; Lambert, AM; Westall, RG1
Gaitonde, MK; Gaull, G1

Other Studies

29 other study(ies) available for cystine and Deficiency, Mental

ArticleYear
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
    Journal of Korean medical science, 2010, Volume: 25, Issue:1

    Topics: Adolescent; Amino Acid Substitution; Amino Acid Transport Systems, Basic; Amino Acids; Ataxia; Base Sequence; Cystine; Cystinuria; Humans; Intellectual Disability; Male; Mutation, Missense; Pedigree; Republic of Korea

2010
ABNORMAL AMINO-ACID EXCRETION IN CEREBRAL DISEASE.
    Developmental medicine and child neurology, 1963, Volume: 5

    Topics: Brain Diseases; Cerebrospinal Fluid; Child; Chromatography; Cystine; Epilepsy; Glutamates; Humans; Intellectual Disability; Kidney; Renal Aminoacidurias; Taurine; Urine

1963
PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA.
    Journal of clinical pathology, 1964, Volume: 17

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arachnodactyly; Child; Cystine; Fatty Liver; Homocystinuria; Humans; Intellectual Disability; Intracranial Embolism; Intracranial Embolism and Thrombosis; Kidney; Marfan Syndrome; Pathology; Renal Aminoacidurias; Thrombosis; Vascular Diseases

1964
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM.
    The Journal of pediatrics, 1964, Volume: 65

    Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatinine; Cystine; Glutamates; Glutamine; Glycine; Humans; Infant; Intellectual Disability; Mass Screening; Renal Aminoacidurias; Threonine

1964
A characteristic phenotypic retinal appearance in Norrie disease.
    Retina (Philadelphia, Pa.), 2007, Volume: 27, Issue:2

    Topics: Cystine; Deafness; Eye Proteins; Humans; Intellectual Disability; Male; Mutation; Nerve Tissue Proteins; Phenotype; Retina; Retinal Dysplasia; Retrospective Studies; Reverse Transcriptase Polymerase Chain Reaction

2007
Cystathioninuria: management.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Child; Child, Preschool; Cystine; Female; Humans; In Vitro Techniques; Intellectual Disability; Liver; Male; Methionine; Middle Aged; Pregnancy; Pyridoxal Phosphate; Pyridoxine; Thrombocytopenia

1967
Homocystinuria. Trial treatment of a 5-year old severely retarded child with a natural diet low in methionine.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Child, Preschool; Cystine; Diet Therapy; Female; Growth; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Methionine; Neurologic Manifestations

1967
Homocystinuria: amino acid pattern of the liver.
    The Tohoku journal of experimental medicine, 1967, Volume: 92, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child, Preschool; Cystine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Liver; Male; Methionine

1967
The Sabinas syndrome.
    American journal of human genetics, 1981, Volume: 33, Issue:6

    Topics: Adolescent; Adult; Amino Acids; Copper; Cystine; Female; Genes, Recessive; Hair; Hair Diseases; Humans; Intellectual Disability; Male; Mexico; Microscopy, Electron; Nails, Malformed; Pedigree; Syndrome; Zinc

1981
Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.
    American journal of medical genetics, 1994, Aug-15, Volume: 52, Issue:2

    Topics: Alopecia; Child, Preschool; Cystine; DNA Repair; Dwarfism; Fatal Outcome; Female; Hair; Humans; Ichthyosis; Infant, Newborn; Intellectual Disability; Recurrence; Respiratory Tract Infections; Sudden Infant Death; Syndrome; Xeroderma Pigmentosum

1994
Diagnosis of trichothiodystrophy in 2 siblings.
    Dermatology (Basel, Switzerland), 1997, Volume: 194, Issue:1

    Topics: Ataxia; Child; Consanguinity; Cystine; Dermatitis, Atopic; Dysarthria; Epilepsy; Female; Finger Joint; Genes, Recessive; Growth Disorders; Hair; Humans; Intellectual Disability; Joint Instability; Male; Microscopy, Electron, Scanning; Microscopy, Polarization; Muscle Spasticity; Strabismus; Sulfur

1997
Trichothiodystrophy: report of a new case with severe nervous system impairment.
    Journal of child neurology, 1992, Volume: 7, Issue:3

    Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Cystine; Female; Hair; Hair Diseases; Humans; Ichthyosis; Intellectual Disability; Microscopy, Electron, Scanning; Nervous System Diseases; Neurologic Examination; Optic Atrophy

1992
The trichothiodystrophy syndrome of Pollitt.
    Pediatric radiology, 1988, Volume: 18, Issue:2

    Topics: Bone Diseases, Metabolic; Child, Preschool; Cystine; Dwarfism; Hair; Humans; Intellectual Disability; Male; Osteosclerosis; Syndrome

1988
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor.
    Lancet (London, England), 1968, Aug-31, Volume: 2, Issue:7566

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cystine; Diet Therapy; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Pyridoxine; Thrombosis

1968
Arginosuccinicaciduria. The hair abnormality.
    American journal of diseases of children (1960), 1974, Volume: 127, Issue:5

    Topics: Amino Acids; Ammonia; Arginine; Ataxia; Blood Urea Nitrogen; Child, Preschool; Chromatography, Paper; Cystine; Electroencephalography; Epilepsy, Tonic-Clonic; Female; Hair; Humans; Intellectual Disability; Metabolism, Inborn Errors; Stress, Mechanical; Succinates; Syndrome

1974
Metabolism of sulfur-containing amino acids in a patient excreting -mercaptolactate-cysteine disulfide.
    Biochemical medicine, 1973, Volume: 7, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Cysteine; Cystine; Disulfides; Humans; Intellectual Disability; Lactates; Male; Methionine; Sulfur; Sulfur Isotopes; Taurine; Time Factors

1973
[Homocystinuria: clinical picture, therapy and results in 8 patients].
    Deutsche medizinische Wochenschrift (1946), 1973, Jul-06, Volume: 98, Issue:27

    Topics: Body Weight; Child; Child, Preschool; Cystine; Dietary Proteins; Female; Hair; Homocystine; Homocystinuria; Humans; Infant; Intellectual Disability; Methionine; Pyridoxine

1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study.
    Journal of mental deficiency research, 1973, Volume: 17, Issue:2

    Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine

1973
Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 36, Issue:1

    Topics: Abnormalities, Multiple; Aspartic Acid; Chromatography, Ion Exchange; Cystine; Female; Humans; Intellectual Disability; Rubinstein-Taybi Syndrome; Serine

1972
Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings.
    The Biochemical journal, 1971, Volume: 122, Issue:4

    Topics: Acrylates; Amino Acids; Animals; Chromatography, DEAE-Cellulose; Cystine; Electrophoresis; Female; Gels; Hair; Humans; Hydrolysis; Intellectual Disability; Isoelectric Focusing; Molecular Weight; Optical Rotatory Dispersion; Proteins; Sheep; Sulfur; Tritium; Wool

1971
Synthesis of the isomers of the mono- and di-hydroxy-analogues of cystine and comparison with metabolites excreted in the urine.
    Journal of the Chemical Society. Perkin transactions 1, 1971, Volume: 12

    Topics: Chromatography, Ion Exchange; Cystine; Cystinuria; Humans; Hydroxylation; Infrared Rays; Intellectual Disability; Optical Rotation; Spectrum Analysis; Stereoisomerism; Structure-Activity Relationship; Sulfides

1971
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids.
    The Journal of pediatrics, 1970, Volume: 77, Issue:2

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Child; Chromatography, Thin Layer; Consanguinity; Cystine; Cystinuria; Diarrhea; Female; Growth; Humans; Intellectual Disability; Lysine; Malabsorption Syndromes; Ornithine; Renal Aminoacidurias; Vomiting

1970
Guilt by association?
    The New England journal of medicine, 1970, Oct-08, Volume: 283, Issue:15

    Topics: Brain; Child, Preschool; Cystine; Cystinuria; Heterozygote; Homozygote; Humans; Intellectual Disability; Mental Disorders

1970
Homocystinuria. Report of two cases in siblings.
    Indian journal of pediatrics, 1970, Volume: 37, Issue:269

    Topics: Child; Cystine; Diet Therapy; Female; Folic Acid; Homocystinuria; Humans; Intellectual Disability; Lens, Crystalline; Male; Pedigree; Pyridoxine

1970
Beta mercaptolactate-cysteine disulfide: analog of cystine in the urine of a mentally retarded patient.
    Science (New York, N.Y.), 1968, Apr-26, Volume: 160, Issue:3826

    Topics: Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Chromatography, Ion Exchange; Cyanides; Cysteine; Cystine; Electrophoresis; Ferrocyanides; Humans; Indicators and Reagents; Intellectual Disability; Lactates; Middle Aged; Spectrum Analysis; Sulfhydryl Compounds

1968
Homocystinuria.
    Canadian Medical Association journal, 1968, Nov-23, Volume: 99, Issue:20

    Topics: Child; Child, Preschool; Cystine; Diet Therapy; Homocystinuria; Humans; Infant; Intellectual Disability; Thrombosis

1968
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.
    Neurology, 1966, Volume: 16, Issue:4

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood; Blood Coagulation Disorders; Brain; Child; Child, Preschool; Cystine; Electroencephalography; Female; Homocysteine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Infant; Intellectual Disability; Intracranial Embolism and Thrombosis; Kidney Diseases; Male; Methionine; Taurine; Urine

1966
Dietary treatment of homocystinuria.
    Archives of disease in childhood, 1966, Volume: 41, Issue:220

    Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Cystine; Diet Therapy; Female; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Methionine

1966
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.
    Journal of medical genetics, 1966, Volume: 3, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Cystine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Lens, Crystalline; Male; Methionine; Middle Aged; Sulfur Isotopes

1966