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hydroxyproline and Amino Acid Metabolism Disorders, Inborn

hydroxyproline has been researched along with Amino Acid Metabolism Disorders, Inborn in 74 studies

Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation.
hydroxyproline : A proline derivative that is proline substituted by at least one hydroxy group.

Research Excerpts

ExcerptRelevanceReference
"Hydroxyprolinemia is an inborn error of amino acid degradation that is considered a non-disease."1.43Genetic cause and prevalence of hydroxyprolinemia. ( Fang-Hoffmann, J; Feyh, P; Gramer, G; Haack, TB; Hoffmann, GF; Kölker, S; Mayatepek, E; Okun, JG; Prokisch, H; Raga, DE; Sauer, S; Staufner, C; Terrile, C, 2016)
"Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry."1.32Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry. ( Baykal, T; Demir, F; Demirkol, M; Gokcay, G; Karaaslan, I; Laleli, Y, 2004)
"Hydroxyproline is a major constituent of collagen."1.30Hydroxyprolinemia: comparison of a patient and her unaffected twin sister. ( Kim, SZ; Levy, HL; Varvogli, L; Waisbren, SE, 1997)
"Hydroxyproline metabolism was evaluated in two sisters with hydroxyprolinemia and their mother."1.26Hydroxyproline metabolism in two sisters with hydroxyprolinemia. ( Blankenship, PR; Coryell, ME; Hall, WK; Lynch, WR; Roesel, RA; Thevaos, TG, 1979)
"Hydroxyproline metabolism was studied in two patients with type II hyperprolinaemia (HP II) using oral loadings of hydroxyproline or hydroxyproline-ornithine."1.26Hydroxyproline metabolism in type II hyperprolinaemia. ( Similä, S, 1979)

Research

Studies (74)

TimeframeStudies, this research(%)All Research%
pre-199064 (86.49)18.7374
1990's4 (5.41)18.2507
2000's3 (4.05)29.6817
2010's3 (4.05)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Li, X1
Ding, Y1
Liu, Y1
Ma, Y1
Song, J1
Wang, Q1
Yang, Y1
Staufner, C1
Haack, TB1
Feyh, P1
Gramer, G1
Raga, DE1
Terrile, C1
Sauer, S1
Okun, JG1
Fang-Hoffmann, J1
Mayatepek, E1
Prokisch, H1
Hoffmann, GF1
Kölker, S1
Veldhuijzen, N1
Kamphuis, S1
van den Bergh, F1
Spronk, P1
Braber, A1
JONES, CR1
BERGMAN, MW1
KITTNER, PJ1
PIGMAN, WW1
KIVIRIKKO, KI2
KOIVUSALO, M1
LAITINEN, O1
LAMBERG, BA1
SCRIVER, CR4
EFRON, ML8
SCHAFER, IA1
YOUNG, D1
MOSER, HW1
MACCREADY, RA1
KOPELMAN, H1
ASATOOR, AM1
MILNE, MD1
GOLDBLOOM, RB1
ROY, CC1
BIXBY, EM2
PRYLES, CV1
GARLAND, J1
Baykal, T1
Karaaslan, I1
Gokcay, G1
Demir, F1
Laleli, Y1
Demirkol, M1
la Marca, G1
Malvagia, S1
Pasquini, E1
Donati, MA1
Gasperini, S1
Procopio, E1
Zammarchi, E1
Shih, VE1
Mechanic, GL1
Hyman, PE1
Shapiro, LJ1
Charpentier, C1
Dagbovie, K1
Lemonnier, A1
Larregue, M1
Johnstone, RA1
Wellner, D1
Meister, A1
Robinson, MJ1
Menzies, IS1
Sloan, I1
Parto, K1
Penttinen, R1
Paronen, I1
Pelliniemi, L1
Simell, O1
Kim, SZ1
Varvogli, L1
Waisbren, SE1
Levy, HL1
Endo, F1
Ohura, T1
Lopes, I1
Marques, L1
Neves, E1
Silva, A1
Taveira, M1
Pena, R1
Vilarinho, L1
Martins, E1
Kanwar, YS1
Krakower, CA1
Manaligod, JR1
Justice, P1
Wong, PW1
Valle, D1
Goodman, SI3
Harris, SC1
Phang, JM1
Roesel, RA1
Blankenship, PR1
Lynch, WR1
Coryell, ME1
Thevaos, TG1
Hall, WK1
Similä, S1
Adams, E2
Ramaswamy, S1
Lamon, M1
Powell, GF1
Maniscalco, RM1
Jackson, SH1
Dennis, AW1
Greenberg, M1
Heinrich, D1
Metz, J1
Kubli, F1
Statter, M1
Ben-Zvi, A1
Shina, A1
Schein, R1
Russell, A1
Berio, A2
Allegranza, A1
Scapaticci, E1
Cadoni, M1
Camozzi, C1
Cavallo, V1
Di Stefano, A2
Santos, JG1
Browder, JA1
Saito, S1
McCully, KS1
Pelkonen, R1
Heacock, AM1
Rama Rao, BS1
Subhash, MN1
Narayanan, HS1
Frimpter, GW2
Buist, NR1
Strandholm, JJ1
Bellinger, JF1
Kennaway, NG1
Potter, JL1
Waickman, FJ1
Blehová, B1
Păzoutová, N1
Hyánek, J1
Jirásek, J1
Nusgens, B1
Lapiere, CM1
Mace, JW1
Miles, BS1
Teng, CC1
Brown, SB1
Winick, M1
Brasel, JA1
Velasco, E1
Rosso, P1
Krieger, I1
Hart, ZH1
Ampola, MG1
Menne, F1
Alderman, MH1
Isaacs, M1
Scheiner, E1
Pinnell, SR1
Krane, SM1
Kenzora, JE1
Glimcher, MJ1
Prockop, DJ2
Ghisolfi, J1
Augier, D1
Fabre, J1
Delsol, G1
Régnier, C1
Bellati, R1
Viglione, M1
Dogan, K1
Dogan, S1
Lipovac, K1
Woody, NC1
Snyder, CH1
Harris, JA1
Dodinval, P1
Willems, C1
Heusden, AM1
Hainaut, H1
Gottschalk, C1
Harries, JT1
Piesowicz, AT2
Seakins, JW1
Francis, DE1
Wolff, OH1
Whelan, DT1
Hockaday, TD2
Smith, LH2
Meshorer, E1
Rokkones, T1
Loken, AC1
Fraser, GR1
Friedmann, AI1
Patton, VM1
Wade, DN1
Woolf, LI1
Blattner, RJ1
Berger, R1
Broyer, M1
Tada, K1
Barnes, MJ1
Constable, BJ1
Kodicek, E1
Clayton, JE1
Minder, FC1
Dubach, UC1
Antener, I1
Opieńska-Blauth, J1
Gebala, A1
Sanecka-Obacz, M1
Kozlowska, T1
Stryjecka, M1

Reviews

7 reviews available for hydroxyproline and Amino Acid Metabolism Disorders, Inborn

ArticleYear
AMINOACIDURIA.
    The New England journal of medicine, 1965, May-27, Volume: 272

    Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cystinuria; Histidine; Homocysteine; Hum

1965
A survey of inborn errors of amino acid metabolism and transport in man.
    Annual review of biochemistry, 1981, Volume: 50

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport

1981
[Hydroxyprolinemia].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Hydroxyproline; Prognosis

1998
[Familial iminoglycinuria].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Genotype; Glycine; Humans; Hydroxypro

1998
Aminoacidurias due to inherited disorders of metabolism. 2.
    The New England journal of medicine, 1973, Oct-25, Volume: 289, Issue:17

    Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline;

1973
The aminoacidurias.
    Pediatric clinics of North America, 1967, Volume: 14, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; H

1967
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
    Hippokrates, 1968, May-31, Volume: 39, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi

1968

Trials

1 trial available for hydroxyproline and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Bound hydroxyproline excretion following gelatin loading in prolidase deficiency.
    Metabolism: clinical and experimental, 1976, Volume: 25, Issue:5

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Clinical Trials as Topic; Dipeptidases; Female;

1976

Other Studies

66 other studies available for hydroxyproline and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
    Brain & development, 2015, Volume: 37, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Case-Control Studies; Child, Preschool; China; F

2015
Genetic cause and prevalence of hydroxyprolinemia.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Germany; Heterozygote; Homozy

2016
Madam, why are you so sour? Cause, diagnosis and complication of 5-oxoprolinemia.
    European journal of anaesthesiology, 2012, Volume: 29, Issue:8

    Topics: Acetaminophen; Acid-Base Equilibrium; Acidosis; Aged; Amino Acid Metabolism, Inborn Errors; Analgesi

2012
URINARY HYDROXYPROLINE EXCRETION IN NORMAL CHILDREN AND ADOLESCENTS.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1964, Volume: 115

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Body Fluids; Child; Humans; Hydroxyproline; Kidney

1964
HYDROXYPROLINE IN THE SERUM AND URINE OF PATIENTS WITH HYPERTHYROIDISM.
    The Journal of clinical endocrinology and metabolism, 1964, Volume: 24

    Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Humans; Hydroxyproline; Hyperthyroidi

1964
RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA.
    The Journal of clinical investigation, 1964, Volume: 43

    Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Child; Genetics, Medi

1964
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
    The New England journal of medicine, 1964, Jun-25, Volume: 270

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulli

1964
HYPERPROLINAEMIA AND HEREDITARY NEPHRITIS.
    Lancet (London, England), 1964, Nov-21, Volume: 2, Issue:7369

    Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Blood; Blood Chemical

1964
HYPOPHOSPHATEMIC RICKETS WITH RENAL HYPER-GLYCINURIA, RENAL GLUCOSURIA, AND GLYCYL-PROLINURIA. A SYNDROME WITH EVIDENCE FOR RENAL TUBULAR SECRETION OF PHOSPHORUS.
    Pediatrics, 1964, Volume: 34

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chronic Kidney Disease-Mineral and Bone Disorder;

1964
HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".
    The New England journal of medicine, 1965, Jun-24, Volume: 272

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Blood; Blood Chemical

1965
IMINOACIDOPATHIES.
    The New England journal of medicine, 1965, Jun-24, Volume: 272

    Topics: Amino Acid Metabolism, Inborn Errors; Hydroxyproline; Proline

1965
Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.
    Journal of inherited metabolic disease, 2004, Volume: 27, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hydroxyproline; Infant, Newborn; Mass Spectrom

2004
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
    Rapid communications in mass spectrometry : RCM, 2005, Volume: 19, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydroxyproline; Infant, Newborn; Male; Metabolism, Inb

2005
Treatment of hydroxyprolinemia and hyperprolinemia.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydroxyproline; Proline

1967
Membrane transport in disorders of imino-acid metabolism.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Hydroxyproline; Infant; Infant, Newbo

1967
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
    Analytical biochemistry, 1967, Volume: 20, Issue:2

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; C

1967
Dietary hyperhydroxyprolinemia.
    The Journal of pediatrics, 1984, Volume: 104, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydroxyproline; Infant; Infant Food

1984
Prolidase deficiency with iminodipeptiduria: biochemical investigations and first results of attempted therapy.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Dipeptidases; Dipeptides; Erythrocytes;

1981
Hydroxyprolinaemia with normal development.
    Archives of disease in childhood, 1980, Volume: 55, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Growth; Humans; Hydroxyproline; Infant; Male

1980
Osteoporosis in lysinuric protein intolerance.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:2

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biological Transport; Bone and Bones; Child

1993
Hydroxyprolinemia: comparison of a patient and her unaffected twin sister.
    The Journal of pediatrics, 1997, Volume: 130, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Diseases in Twins; Female; Humans; Hydroxyproline; Inte

1997
Prolidase deficiency with hyperimmunoglobulin E: a case report.
    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2002, Volume: 13, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Dipeptidases; Female; Humans; Hydroxyproline; Hypergamm

2002
Biochemical, morphological and hybrid studies in hyperprolinemic mice.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1975, Volume: 22, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Animals; Chromosome Aberrations; C

1975
Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.
    The Journal of clinical investigation, 1979, Volume: 64, Issue:5

    Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Fibroblasts; Glutamat

1979
Hydroxyproline metabolism in two sisters with hydroxyprolinemia.
    Human heredity, 1979, Volume: 29, Issue:6

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Glycolates; Humans; Hydroxyproline; Intellectua

1979
Hydroxyproline metabolism in type II hyperprolinaemia.
    Annals of clinical biochemistry, 1979, Volume: 16, Issue:4

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Glycine; Humans; Hydroxyprol

1979
3-Hydroxyproline content of normal urine.
    The Journal of clinical investigation, 1978, Volume: 61, Issue:6

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Hydroxyproline; Male

1978
Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes.
    Canadian Medical Association journal, 1975, Oct-18, Volume: 113, Issue:8

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Collagen; Dipeptidases; Dipeptides; Erythroc

1975
[The pattern of distribution of free amino acids in human amniotic fluid related to the duration of pregnancy. Part II: Changes in concentration in pathological pregnancy (author's transl)].
    Zeitschrift fur Geburtshilfe und Perinatologie, 1977, Volume: 181, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Female; Fetal Diseases; Gestation

1977
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype".
    Helvetica paediatrica acta, 1976, Volume: 31, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Hydroxyproline; Imino Acids; Infant;

1976
[Results of a period of research (1967-1974) in the field of disorders of transport amino acid and metabolism using chromatographic, electrophoretic and dosimetric methods].
    Minerva pediatrica, 1975, Sep-29, Volume: 27, Issue:30

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Electrophoresis; Female;

1975
Hydroxylysinuria in association with trisomy 21.
    Lancet (London, England), 1970, Nov-28, Volume: 2, Issue:7683

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Paper; Collagen

1970
[Growth hormone].
    Nihon Naibunpi Gakkai zasshi, 1967, Nov-20, Volume: 43, Issue:8

    Topics: Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Carbon Is

1967
Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis.
    The American journal of pathology, 1970, Volume: 59, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arteriosclerosis; Carbon Isotopes; Chemical Pheno

1970
Hydroxyprolinemia: an apparently harmless familial metabolic disorder.
    The New England journal of medicine, 1970, Aug-27, Volume: 283, Issue:9

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Collagen; D-Amino

1970
Formation and excretion of pyrrole-2-carboxylate in man.
    The Journal of clinical investigation, 1974, Volume: 54, Issue:4

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Carbon Radioisotopes; Carboxylic A

1974
Hydroxyprolinemia: a case report.
    Indian pediatrics, 1974, Volume: 11, Issue:12

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Hydroxyproline; Male

1974
Further studies on a patient with iminodipeptiduria: a probable case of prolidase deficiency.
    Metabolism: clinical and experimental, 1972, Volume: 21, Issue:12

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromatography, Ion Exchange; Dansyl Com

1972
Hyperprolinemia. I. Study of a large family.
    The Journal of pediatrics, 1973, Volume: 83, Issue:4

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glycine; H

1973
Iminoglycinuria in a child in Czechoslovakia.
    Humangenetik, 1973, Jul-20, Volume: 19, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Cerebrospinal Fluid Proteins; Deafness; Female; Glycine; Human

1973
The relationship between proline and hydroxyproline urinary excretion in human as an index of collagen catabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1973, Oct-12, Volume: 48, Issue:2

    Topics: Adolescent; Adult; Aging; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatogra

1973
Defective hydroxyproline metabolism in type II hyperprolinemia.
    Biochemical medicine, 1974, Volume: 10, Issue:4

    Topics: Amines; Amino Acid Metabolism, Inborn Errors; Amino Acids; Benzaldehydes; Carboxylic Acids; Child; C

1974
Effects of early nutrition on growth of the central nervous system.
    Birth defects original article series, 1974, Volume: 10, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Animals; Brain; Brain Chemistry; Central Nervo

1974
Valine-sensitive nonketotic hyperglycinemia. Case report.
    The Journal of pediatrics, 1974, Volume: 85, Issue:1

    Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Benzoates; Brain Diseases; Brain Stem; C

1974
Glycylproline peptiduria in familial hyperostosis of obscure nature.
    Metabolism: clinical and experimental, 1969, Volume: 18, Issue:8

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatograph

1969
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.
    The New England journal of medicine, 1972, May-11, Volume: 286, Issue:19

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bone and Bones; Cartilage; Child; Collagen; Colla

1972
A subtle disease and a dilemma: can cells secrete collagen that does not contain a sugar-tag?
    The New England journal of medicine, 1972, May-11, Volume: 286, Issue:19

    Topics: Amino Acid Metabolism, Inborn Errors; Collagen; Collagen Diseases; Disaccharides; Galactose; Glucose

1972
[Familial encephalopathy, imino-glycinuria, hydroxyprolinemia].
    Archives francaises de pediatrie, 1972, Volume: 29, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Glomerular Filtration Rate; Glycine; Humans; H

1972
[The use of some recent methods for diagnosis of aminoacidopathy. Personal results].
    Minerva pediatrica, 1971, Sep-15, Volume: 23, Issue:37

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Electrophoresis; Fanconi Syndrome

1971
[Familial hyperprolinemia].
    Neuropsihijatrija, 1968, Volume: 16, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Hydroxyproline; Male;

1968
Hyperprolinemia: clinical and biochemical family study.
    Pediatrics, 1969, Volume: 44, Issue:4

    Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Brain; Bronchopneumonia; Central Nervous System

1969
[Renal clearance of amino acid in a hyperprolinemic child].
    Journal de genetique humaine, 1969, Volume: 17, Issue:3

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Child, Preschool; Female; Gly

1969
Hydroxyprolinemia as an illustration of nonessential enzymes in man.
    The New England journal of medicine, 1970, Aug-27, Volume: 283, Issue:9

    Topics: Amino Acid Metabolism, Inborn Errors; Collagen; Humans; Hydroxyproline; Intellectual Disability; Pep

1970
Low proline diet in type I hyperprolinaemia.
    Archives of disease in childhood, 1971, Volume: 46, Issue:245

    Topics: Amino Acid Metabolism, Inborn Errors; Bone Diseases; Diet Therapy; Electroencephalography; Glycine;

1971
Cystathioninuria and renal iminoglycinuria in a pedigree.
    The New England journal of medicine, 1968, Apr-25, Volume: 278, Issue:17

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chroma

1968
Hydroxyprolinemia. 3. The origin of free hydroxyproline in hydroxyprolinemia. Collagen turnover. Evidence for biosynthetic pathway in man.
    Biochimica et biophysica acta, 1968, Sep-03, Volume: 165, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Carbon Isotopes; Collagen; Diet Therapy; Glutar

1968
Hyperprolinaemia.
    Archives of disease in childhood, 1968, Volume: 43, Issue:232

    Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Hydroxyproline; Infant; Male; Proline

1968
Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria.
    Acta paediatrica Scandinavica, 1968, Volume: 57, Issue:3

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Genetic Diseases, Inborn; Hu

1968
Iminoglycinuria--a "harmless" inborn error of metabolism?
    Humangenetik, 1968, Volume: 6, Issue:4

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blindness; Consanguinity; Deafness; G

1968
Iminoaciduria.
    The Journal of pediatrics, 1969, Volume: 74, Issue:1

    Topics: Albinism; Amino Acid Metabolism, Inborn Errors; Audiometry; Biological Transport; Cell Membrane Perm

1969
[Hyperprolinemia and hydroxyprolinemia].
    La Presse medicale, 1969, May-28, Volume: 77, Issue:26

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Collagen; Consanguinity; Female; Genes, Recessive; Glyc

1969
[Prolinuria].
    Saishin igaku. Modern medicine, 1969, Volume: 24, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Thin Layer; Female; Glycine;

1969
Excretion of hydroxyproline and other amino acids in scorbutic guinea-pigs.
    Biochimica et biophysica acta, 1969, Jul-30, Volume: 184, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Autoanalysis; Body Weight; Coll

1969
The metabolic error in primary hyperoxaluria.
    Archives of disease in childhood, 1965, Volume: 40, Issue:213

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carbon Isotopes; Family; Glycine; Glycolates; Glyo

1965
[Hereditary nephropathy and hardness of hearing (with metabolic disorders of amino acids and fats in a family from Switzerland)].
    Zeitschrift fur klinische Medizin, 1965, Dec-31, Volume: 158, Issue:7

    Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Deafness; Dw

1965
Aminoaciduria in bone diseases in children.
    Annales paediatrici. International review of pediatrics, 1966, Volume: 207, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Bone Diseases; Child; Child, Preschool; Chromatography; Humans

1966