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Studies of intestinal transport defect in Hartnup disease.

Shih, V E; Bixby, E M; Alpers, D H; Bartoscas, C S; Thier, S O.

Gastroenterology ; 61(4): 445-53, 1971 Oct.

Article in English | MEDLINE | ID: mdl-5157127

Subject(s)

Hartnup Disease/metabolism , Intestinal Mucosa/metabolism , Adolescent , Biological Transport , Carbon Isotopes , Child , Culture Techniques , Feces/analysis , Genes, Recessive , Humans , Intellectual Disability/etiology , Jejunum/metabolism , Leucine/analysis , Leucine/blood , Leucine/metabolism , Leucine/urine , Lysine , Male , Methionine/analysis , Methionine/blood , Methionine/metabolism , Methionine/urine , Phenylalanine/analysis , Phenylalanine/blood , Phenylalanine/metabolism , Phenylalanine/urine , Proline/analysis , Proline/blood , Proline/metabolism , Proline/urine , Tryptophan/metabolism

Mental deficiency and a new aminoaciduria.

Ampola, M G; Efron, M L; Bixby, E M; Meshorer, E.

Am J Dis Child ; 117(1): 66-70, 1969 Jan.

Article in English | MEDLINE | ID: mdl-4973015

Subject(s)

Amino Acid Metabolism, Inborn Errors/metabolism , Intellectual Disability/metabolism , Sulfhydryl Compounds/metabolism , Sulfides/metabolism , Amino Acid Metabolism, Inborn Errors/complications , Amino Acid Metabolism, Inborn Errors/diagnostic imaging , Chromatography, Paper , Cysteine/metabolism , Electrocardiography , Electroencephalography , Eye Abnormalities , Humans , Infections/complications , Intellectual Disability/complications , Intellectual Disability/diagnostic imaging , Intelligence Tests , Male , Middle Aged , Neurologic Examination , Radiography , Seizures/complications

Hydroxyprolinemia. 3. The origin of free hydroxyproline in hydroxyprolinemia. Collagen turnover. Evidence for biosynthetic pathway in man.

Efron, M L; Bixby, E M; Hockaday, T D; Smith, L H; Meshorer, E.

Biochim Biophys Acta ; 165(2): 238-50, 1968 Sep 03.

Article in English | MEDLINE | ID: mdl-5683524

Subject(s)

Amino Acid Metabolism, Inborn Errors/etiology , Collagen/metabolism , Hydroxyproline/blood , Ascorbic Acid/pharmacology , Carbon Isotopes , Diet Therapy , Glutarates/biosynthesis , Glyoxylates/metabolism , Humans , Hydroxyproline/biosynthesis , Hydroxyproline/urine , Oxidoreductases/analysis

Beta mercaptolactate-cysteine disulfide: analog of cystine in the urine of a mentally retarded patient.

Crawhall, J C; Parker, R; Sneddon, W; Young, E P; Ampola, M G; Efron, M L; Bixby, E M.

Science ; 160(3826): 419-20, 1968 Apr 26.

Article in English | MEDLINE | ID: mdl-5644041

ABSTRACT

beta-Mercaptolactate-cysteine disulfide, a hitherto undescribed analog of cystine, was isolated from the urine of a mentally retarded patient. The propertis of this substance are described, and its structure is confirmed by mass spectrometry and by partial synthesis.

Subject(s)

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

[The polymorphic forms of alpha 1-acid glycoprotein of mentally retarded patients]. / Polymorphisme de l'alpha 1-glycoprotéine acide chez des malades retardés mentaux.

Debray-Sachs, M; Schmid, K; Bixby, E M.

Ann Biol Clin (Paris) ; 24(1): 203-12, 1966.

Article in French | MEDLINE | ID: mdl-5906418

Subject(s)

Glycoproteins , Intellectual Disability , Electrophoresis , Humans , In Vitro Techniques

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