ammonium hydroxide has been researched along with Deficiency, Mental in 119 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "A protein load with an ensuing 20 hr fast was performed to assess the function of biotin dependent carboxylases in 3 girls with Rett syndrome." | 7.67 | Biotin and Rett syndrome. ( Bachmann, C; Colombo, JP; da Silva, V; Gugler, E; Kilian, W; Rett, A, 1986) |
| "We studied 26 children with inborn errors of urea synthesis who survived neonatal hyperammonemic coma." | 3.67 | Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. ( Batshaw, ML; Brusilow, SW; Mellits, ED; Msall, M; Suss, R, 1984) |
| "A protein load with an ensuing 20 hr fast was performed to assess the function of biotin dependent carboxylases in 3 girls with Rett syndrome." | 3.67 | Biotin and Rett syndrome. ( Bachmann, C; Colombo, JP; da Silva, V; Gugler, E; Kilian, W; Rett, A, 1986) |
| " Some neuroprotective strategies such as the potential use of NMDA receptor antagonists, nitric oxide inhibitors, creatine and acetyl-l-carnitine have been suggested to counteract these toxic effects." | 2.44 | Hyperammonemia-induced toxicity for the developing central nervous system. ( Braissant, O; Cagnon, L, 2007) |
| "Because Rett syndrome is a relatively homogeneous and common syndrome of idiopathic mental retardation, epidemiologic methods may be more productive in the study of Rett syndrome than in other syndromes of mental retardation that are less clinically homogeneous." | 2.37 | The epidemiology and public health significance of Rett syndrome. ( Adams, MJ; Trevathan, E, 1988) |
| "A boy suffered from hypoglycemic coma with relative hyperinsulinemia on day 1 after birth, and received subtotal pancreatectomy." | 1.31 | A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene. ( Akanuma, Y; Kadowaki, H; Kadowaki, T; Kimura, S; Koda, N; Ogawa, Y; Yasuda, K, 2001) |
| "We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome." | 1.27 | A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. ( Batshaw, ML; Hyman, SL, 1986) |
| "Rett syndrome was also observed in two sisters." | 1.27 | The clinical pattern of the Rett syndrome. ( Hanefeld, F, 1985) |
| "The infant developed severe mental retardation, athetosis, and spasticity." | 1.25 | Familial hyperargininaemia. ( Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG, 1975) |
| "Orotic aciduria was present (max: 693 mg/day) and was related to NH4 levels." | 1.25 | [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. ( Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 111 (93.28) | 18.7374 |
| 1990's | 3 (2.52) | 18.2507 |
| 2000's | 4 (3.36) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (0.84) | 2.80 |
| Authors | Studies |
|---|---|
| Pontoizeau, C | 1 |
| Roda, C | 1 |
| Arnoux, JB | 1 |
| Vignolo-Diard, P | 1 |
| Brassier, A | 1 |
| Habarou, F | 1 |
| Barbier, V | 1 |
| Grisel, C | 1 |
| Abi-Warde, MT | 1 |
| Boddaert, N | 1 |
| Kuster, A | 1 |
| Servais, A | 1 |
| Kaminska, A | 1 |
| Hennequin, C | 1 |
| Dupic, L | 1 |
| Lesage, F | 1 |
| Touati, G | 1 |
| Valayannopoulos, V | 1 |
| Chadefaux-Vekemans, B | 1 |
| Oualha, M | 1 |
| Eisermann, M | 1 |
| Ottolenghi, C | 1 |
| de Lonlay, P | 1 |
| HARRIS, MM | 1 |
| ROTH, RT | 1 |
| HARRIS, RS | 1 |
| ILLIG, R | 1 |
| DUMERMUTH, G | 1 |
| PRADER, A | 1 |
| BRUNE, GG | 1 |
| HOHL, HH | 1 |
| HIMWICH, HE | 1 |
| LOWE, CU | 1 |
| TERREY, M | 1 |
| MacLACHLAN, EA | 1 |
| Cagnon, L | 1 |
| Braissant, O | 1 |
| Mohyuddin, F | 1 |
| Rathbun, JC | 1 |
| McMurray, WC | 1 |
| Westall, RG | 1 |
| Levin, B | 2 |
| Moser, HW | 2 |
| Efron, ML | 2 |
| Brown, H | 1 |
| Diamond, R | 1 |
| Neumann, CG | 1 |
| Lorber, J | 1 |
| Takei, M | 1 |
| Williams, CA | 1 |
| Tiefenbach, S | 1 |
| McReynolds, JW | 1 |
| Call, G | 1 |
| Seay, AR | 1 |
| Sherry, R | 1 |
| Qureshi, IA | 1 |
| Nomura, Y | 1 |
| Segawa, M | 1 |
| Hasegawa, M | 1 |
| Msall, M | 1 |
| Batshaw, ML | 3 |
| Suss, R | 1 |
| Brusilow, SW | 2 |
| Mellits, ED | 1 |
| Mix, M | 1 |
| Heine, W | 1 |
| Bender, M | 1 |
| Kendall, BE | 1 |
| Kingsley, DP | 1 |
| Leonard, JV | 1 |
| Lingam, S | 1 |
| Oberholzer, VG | 1 |
| Adams, W | 1 |
| Singh, NN | 1 |
| Tada, K | 1 |
| Tateda, H | 1 |
| Metoki, K | 1 |
| Grisar, T | 1 |
| Sassaman, EA | 1 |
| Zartler, AS | 1 |
| Mulick, JA | 1 |
| Painter, MJ | 1 |
| Sproul, GT | 1 |
| Schafer, IA | 1 |
| Thomas, GH | 1 |
| Brusilow, S | 1 |
| Whitington, PF | 1 |
| Alonso, EM | 1 |
| Boyle, JT | 1 |
| Molleston, JP | 1 |
| Rosenthal, P | 1 |
| Emond, JC | 1 |
| Millis, JM | 1 |
| Yasuda, K | 1 |
| Koda, N | 1 |
| Kadowaki, H | 1 |
| Ogawa, Y | 1 |
| Kimura, S | 1 |
| Kadowaki, T | 1 |
| Akanuma, Y | 1 |
| Naito, E | 2 |
| Gutton, P | 1 |
| Shambaugh, GE | 1 |
| Sogawa, H | 1 |
| Oyanagi, K | 1 |
| Nakao, T | 1 |
| Terheggen, HG | 1 |
| Lowenthal, A | 1 |
| Lavinha, F | 1 |
| Colombo, JP | 5 |
| Simell, O | 1 |
| Perheentupa, J | 1 |
| Rapola, J | 1 |
| Visakorpi, JK | 1 |
| Eskelin, LE | 1 |
| Beaudry, MA | 1 |
| Letarte, J | 1 |
| Collu, R | 1 |
| Leboeuf, G | 1 |
| Ducharme, JR | 1 |
| Melancon, SB | 1 |
| Dallairf, L | 1 |
| Tuchman, M | 1 |
| Holzknecht, RA | 1 |
| Rubenstein, JL | 1 |
| Johnston, K | 1 |
| Elliott, GR | 1 |
| Olier, J | 1 |
| Gallego, J | 1 |
| Digon, E | 1 |
| Turova, NF | 1 |
| Ermolina, LA | 1 |
| Baryshnikov, VA | 1 |
| Trevathan, E | 1 |
| Adams, MJ | 1 |
| Haas, RH | 2 |
| Rice, MA | 1 |
| Trauner, DA | 1 |
| Merritt, TA | 1 |
| Bachmann, C | 1 |
| Gugler, E | 1 |
| Kilian, W | 1 |
| Rett, A | 1 |
| da Silva, V | 1 |
| Hyman, SL | 1 |
| Matsuda, I | 2 |
| Ohtani, Y | 1 |
| Ninomiya, N | 1 |
| Fontanesi, J | 1 |
| Dhand, UK | 1 |
| Singhi, P | 1 |
| Chopra, JS | 1 |
| Haust, MD | 1 |
| Gordon, BA | 1 |
| Bernar, J | 1 |
| Hanson, RA | 1 |
| Kern, R | 1 |
| Phoenix, B | 1 |
| Shaw, KN | 1 |
| Cederbaum, SD | 1 |
| Külz, J | 1 |
| Pohl, H | 1 |
| Schober, S | 1 |
| Hanefeld, F | 1 |
| Lugaresi, E | 1 |
| Cirignotta, F | 1 |
| Montagna, P | 1 |
| Barjon, P | 1 |
| Lamarque, JL | 1 |
| Michel, H | 1 |
| Fourcade, J | 1 |
| Mimran, A | 1 |
| Ginestie, JF | 1 |
| Rutsaert, J | 1 |
| Segers-Cadranel, A | 1 |
| Potvliege, P | 1 |
| Hambraeus, L | 2 |
| Hardell, LI | 1 |
| Westphal, O | 1 |
| Lorentsson, R | 1 |
| Hjorth, G | 1 |
| Potter, JL | 1 |
| Timmons, GD | 1 |
| West, R | 1 |
| Silvidi, AA | 1 |
| Merin, S | 1 |
| Crawford, JS | 1 |
| Suschke, J | 1 |
| Murken, JD | 1 |
| Loiodice, G | 1 |
| Bergamo, F | 1 |
| Bisson, GP | 1 |
| Peretti, L | 1 |
| Reviglio, G | 1 |
| Brenton, DP | 1 |
| Cusworth, DC | 1 |
| Hartley, S | 1 |
| Lumley, S | 1 |
| Kuzemko, JA | 1 |
| Woody, NC | 1 |
| Phelip, X | 1 |
| Bocquet, B | 1 |
| Gras, JP | 1 |
| Bouvier, M | 1 |
| Cabanel, G | 1 |
| Lejeune, E | 1 |
| Roschlau, G | 1 |
| Klein, D | 1 |
| König, H | 1 |
| Jagenburg, R | 2 |
| Meberg, A | 1 |
| Steen, G | 1 |
| Gellis, SS | 1 |
| Feingold, M | 1 |
| Vis, HL | 1 |
| Vainsel, M | 1 |
| Willaert, H | 1 |
| Meur, G | 2 |
| Tongue, AC | 1 |
| Frézal, J | 1 |
| Cyvin, KB | 1 |
| Weidemann, J | 1 |
| Bathen, J | 1 |
| Tancredi, F | 1 |
| Striano, S | 1 |
| Ragonese, G | 1 |
| Cedrola, G | 1 |
| Guazzi, GC | 1 |
| Masarone, M | 1 |
| Lythgoe, C | 1 |
| Ramsey, MS | 1 |
| Bartsocas, CS | 1 |
| Erbe, RW | 1 |
| Danis, MP | 1 |
| Raspiller, A | 1 |
| Vidailhet, M | 1 |
| Lepoire, E | 1 |
| Takamizawa, M | 1 |
| Toru, M | 1 |
| Kojima, T | 1 |
| Watanabe, A | 1 |
| Hirokawa, K | 1 |
| Garzuly, F | 1 |
| Jellinger, K | 1 |
| Szabo, L | 1 |
| Toth, K | 1 |
| Vuia, O | 1 |
| Hager, H | 1 |
| Rupp, H | 1 |
| Koch, F | 1 |
| Fell, V | 1 |
| Pollitt, RJ | 1 |
| Sampson, GA | 1 |
| Wright, T | 1 |
| Menne, F | 1 |
| D'iachkova, AIa | 1 |
| Lebedev, BV | 1 |
| Martin, JJ | 1 |
| Schlote, W | 1 |
| Holmes, GE | 1 |
| Tucker, V | 1 |
| Korniszewski, L | 1 |
| Brown, JH | 1 |
| Fabre, LF | 1 |
| Farrell, GL | 1 |
| Adams, ED | 1 |
| Scott-Emuakpor, A | 1 |
| Higgins, JV | 1 |
| Kohrman, AF | 1 |
| Pallisgaard, G | 3 |
| Berardi, G | 1 |
| Brunelli, B | 1 |
| Fornaci, M | 1 |
| Petrollini, R | 1 |
| Piergentili, M | 1 |
| Torbicka, E | 1 |
| Prokurat, H | 1 |
| Bachorek, M | 1 |
| Pucek, Z | 1 |
| Krauss, J | 1 |
| Krupiñska-Sanecka, I | 1 |
| Leskiewicz, W | 1 |
| Piwoñska, S | 1 |
| Ito, K | 1 |
| Lemonnier, A | 1 |
| Pousset, JL | 1 |
| Charpentier, C | 1 |
| Moatti, N | 1 |
| Dustin, P | 1 |
| Texier, JL | 1 |
| Jolly, G | 1 |
| Bach, C | 1 |
| Danis, P | 1 |
| Tommasi, M | 1 |
| Tabib, A | 1 |
| Gilly, J | 1 |
| Jeune, M | 1 |
| Patricot, LM | 1 |
| Johnson, RA | 1 |
| Corbeel, LM | 1 |
| Van Sande, M | 1 |
| Weber, A | 1 |
| Harris, LS | 1 |
| Gitter, KA | 1 |
| Galin, MA | 1 |
| Plechaty, GP | 1 |
| Sagel, I | 1 |
| Ores, RO | 1 |
| Yuceoglu, AM | 1 |
| Sugai, M | 1 |
| Kajii, T | 1 |
| Lis, EW | 1 |
| Lis, AW | 1 |
| DeHackbeil, KF | 1 |
| Kildeberg, P | 1 |
| De Elizalde, F | 1 |
| Cambiano, C | 1 |
| Gravano, JC | 1 |
| Musso, M | 1 |
| Beraldi, MV | 1 |
| Reca, R | 1 |
| Gullotta, F | 1 |
| Müller, E | 1 |
| Gebala, A | 1 |
| Dobrzańska, A | 1 |
| Kozlowska, T | 1 |
| Mach, W | 1 |
| Ruud, E | 1 |
| Pande, H | 1 |
| Harnaes, K | 1 |
| Goldschmidt, E | 1 |
| Malmquist, J | 1 |
| Lindstedt, G | 1 |
| Massicotte, P | 1 |
| Robillard, J | 1 |
| Guay, M | 1 |
| Laverdière, M | 1 |
| Lapierre, JG | 1 |
| Nizankowska-Blaz, T | 1 |
| Kekomäki, M | 1 |
| Toivakka, E | 1 |
| Häkkinen, V | 1 |
| Salaspuro, M | 1 |
| Hopkins, IJ | 1 |
| Connelly, JF | 1 |
| Hocking, B | 1 |
| Maddison, TG | 1 |
| Dobbs, RH | 1 |
| Burgess, EA | 1 |
| Palmer, T | 1 |
| Shih, VE | 2 |
| Solitare, GB | 1 |
| Nelligan, DJ | 1 |
| Dolan, TF | 1 |
9 reviews available for ammonium hydroxide and Deficiency, Mental
| Article | Year |
|---|---|
Hyperammonemia-induced toxicity for the developing central nervous system.
Topics: Ammonia; Animals; Brain; Brain Diseases, Metabolic, Inborn; Cerebral Palsy; Child; Energy Metabolism | 2007 |
Current trends in the treatment of self-injurious behavior.
Topics: 5-Hydroxytryptophan; Adolescent; Adult; Aged; Ammonia; Aversive Therapy; Behavior Therapy; Child; Ch | 1981 |
[Pyruvate carboxylase deficiency].
Topics: Acidosis, Lactic; Ammonia; Diagnosis, Differential; Humans; Intellectual Disability; Mutation; Progn | 2001 |
[Fumarase deficiency].
Topics: Ammonia; Animals; Brain Diseases, Metabolic, Inborn; Energy Metabolism; Fumarate Hydratase; Humans; | 2001 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
The epidemiology and public health significance of Rett syndrome.
Topics: Ammonia; Autistic Disorder; Child; Cross-Sectional Studies; Female; Humans; Intellectual Disability; | 1988 |
Arginnosuccinic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Blood Urea Nitrogen; C | 1967 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi | 1968 |
[Mental retardation and hereditary enzymopathy (review)].
Topics: Ammonia; Carboxy-Lyases; Child; Child, Preschool; Eye Diseases; Galactosemias; Growth Disorders; Har | 1971 |
110 other studies available for ammonium hydroxide and Deficiency, Mental
| Article | Year |
|---|---|
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Topics: Age of Onset; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Developme | 2020 |
Studies regarding glutamine and ammonia in the cerebrospinal fluid of patients with nervous and mental diseases (with some observations on insulin hypoglycemic shock and oligophrenia phenylpyruvica).
Topics: Ammonia; Cerebrospinal Fluid; Glutamine; Humans; Hypoglycemic Agents; Insulin; Intellectual Disabili | 1945 |
[THE OCULO-CEREBRO-RENAL SYNDROME (LOWE). CLINICAL, METABOLIC AND ELECTROENCEPHALOGRAPHIC FINDINGS IN 3 CASES].
Topics: Ammonia; Cataract; Electroencephalography; Electromyography; Glaucoma; Humans; Hydrophthalmos; Infan | 1963 |
URINARY EXCRETION OF BUFOTENIN-LIKE SUBSTANCE IN PSYCHOTIC PATIENTS.
Topics: 1-Propanol; Acetates; Alcohols; Alkaloids; Ammonia; Bufotenin; Chromatography; Hallucinogens; Humans | 1963 |
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.
Topics: Ammonia; Cataract; Eye Diseases; Humans; Hydrophthalmos; Intellectual Disability; Kidney; Syndrome | 1952 |
Studies on amino acid metabolism in citrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Blood Chemical Analysis; Caseins; Child; | 1967 |
Treatment of arginosuccinic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Child; Child, Preschoo | 1967 |
Arginosuccine aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Citrates; Diet Therapy; Glutamates; | 1967 |
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Chromatography, Pa | 1967 |
Hyperammonaemia.
Topics: Ammonia; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, | 1967 |
[Anticonvulsant: a possible cause of abnormal nitrogen metabolism in epileptics with severe physical and mental disabilities].
Topics: Adolescent; Adult; Ammonia; Anticonvulsants; Child; Disabled Persons; Epilepsy; Female; Humans; Inte | 1983 |
Valproic acid-induced hyperammonemia in mentally retarded adults.
Topics: Adolescent; Adult; Aged; Ammonia; Female; Humans; Intellectual Disability; Male; Middle Aged; Valpro | 1984 |
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
Topics: Adult; Ammonia; Brain; Brain Diseases, Metabolic; Carbamoyl-Phosphate Synthase (Ammonia); Electroenc | 1984 |
Rett syndrome--clinical studies and pathophysiological consideration.
Topics: Ammonia; Atrophy; Autistic Disorder; Cerebral Cortex; Child; Child Development; Child, Preschool; El | 1984 |
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1984 |
[Rett syndrome].
Topics: Ammonia; Atrophy; Cerebral Cortex; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intel | 1984 |
Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Brain; Brain Diseases, Metaboli | 1983 |
Treatment of assaultive hair pulling in a multihandicapped youth.
Topics: Aggression; Ammonia; Aversive Therapy; Behavior Therapy; Blindness; Child; Child Behavior Disorders; | 1980 |
A new method for screening of hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Intellectual Disability; Mas | 1982 |
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Arginin | 1982 |
Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); C | 1981 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; C | 1981 |
Liver transplantation for the treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Canada; Carbamoyl-Phosphate Synthase (Ammonia); Child | 1998 |
A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene.
Topics: Allosteric Regulation; Amino Acid Substitution; Ammonia; Apnea; Coma; Genetic Heterogeneity; Glutama | 2001 |
[Reflections apropos of observations of children with hereditary metabolic diseases].
Topics: Adolescent; Ammonia; Child; Child Development; Child, Preschool; Female; Fructose Intolerance; Glyco | 1978 |
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Argininosuccinate Syn | 1977 |
Familial hyperargininaemia.
Topics: Amino Acids; Ammonia; Arginine; Athetosis; Child, Preschool; Chromatography; Cystinuria; Dietary Pro | 1975 |
Lysinuric protein intolerance.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Bi | 1975 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; H | 1975 |
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Age Factors; Ammonia; Child; Child, Preschool; Female; Genetic Variation; Glutami | 1991 |
Haloperidol-induced hyperammonaemia in a child with citrullinaemia.
Topics: Ammonia; Attention Deficit Disorder with Hyperactivity; Child, Preschool; Citrulline; Haloperidol; H | 1990 |
Computerized tomography in primary hyperammonemia.
Topics: Ammonia; Atrophy; Cerebral Cortex; Female; Humans; Infant; Intellectual Disability; Ornithine Carbam | 1989 |
[Characteristics of the amino acid spectrum of the blood of children with intellectual deficiency].
Topics: Amino Acids; Ammonia; Arginine; Aspartic Acid; Child; Female; Glutamates; Glutamic Acid; Humans; Int | 1986 |
Therapeutic effects of a ketogenic diet in Rett syndrome.
Topics: Ammonia; Blood Glucose; Child; Child, Preschool; Dietary Fats; Electroencephalography; Energy Intake | 1986 |
Biotin and Rett syndrome.
Topics: Amino Acids; Ammonia; Biotin; Carboxy-Lyases; Female; Humans; Intellectual Disability; Methylmalonyl | 1986 |
A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Female; Humans; Intellectual Disability; Movem | 1986 |
Renal handling of carnitine in children with carnitine deficiency and hyperammonemia associated with valproate therapy.
Topics: Ammonia; Carnitine; Epilepsy; Humans; Infant; Intellectual Disability; Kidney; Metabolic Clearance R | 1986 |
Cognitive profile of Rett syndrome.
Topics: Adolescent; Adult; Ammonia; Autistic Disorder; Child; Child Development; Child, Preschool; Cognition | 1988 |
Rett's syndrome.
Topics: Ammonia; Autistic Disorder; Child, Preschool; Female; Hand; Humans; Infant; Intellectual Disability; | 1988 |
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Topics: Ammonia; Citrulline; Growth Disorders; Humans; Intellectual Disability; Liver; Lymphocytes; Mitochon | 1987 |
Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function.
Topics: Ammonia; Arginine; Child; Dietary Proteins; Erythrocytes; Food Preferences; Humans; Hyperargininemia | 1986 |
Biogenic amines in the Rett syndrome.
Topics: Ammonia; Biogenic Amines; Humans; Intellectual Disability; Neurocognitive Disorders | 1986 |
A contribution regarding the Rett syndrome.
Topics: Ammonia; Atrophy; Cerebral Cortex; Child Development; Child, Preschool; Electroencephalography; Fema | 1985 |
The clinical pattern of the Rett syndrome.
Topics: Adolescent; Adult; Ammonia; Ataxia; Child; Child Development; Child, Preschool; Dementia; Female; Fo | 1985 |
Abnormal breathing in the Rett syndrome.
Topics: Adolescent; Adult; Ammonia; Apnea; Child; Child Development; Dementia; Electroencephalography; Femal | 1985 |
[Enzymatic disturbances in the urea cycle].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Child, Preschool; Cit | 1969 |
Persistent ductus venosus without portal hypertension in a young alcoholic man.
Topics: Adult; Alcoholism; Ammonia; Atrophy; Blood Volume Determination; Electroencephalography; gamma-Globu | 1972 |
Lowe's syndrome. Pathological studies of four cases.
Topics: Ammonia; Biopsy; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal | 1972 |
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Blood Urea Nitrogen; Cerebella | 1974 |
Arginosuccinicaciduria. The hair abnormality.
Topics: Amino Acids; Ammonia; Arginine; Ataxia; Blood Urea Nitrogen; Child, Preschool; Chromatography, Paper | 1974 |
The etiology of congenital cataracts. A survey of 386 cases.
Topics: Ammonia; Birth Weight; Cataract; Central Nervous System Diseases; Congenital Abnormalities; Down Syn | 1971 |
[Excretion of acid mucopolysaccharides in a child with Lowe's syndrome].
Topics: Ammonia; Eye Diseases; Glycosaminoglycans; Growth Disorders; Humans; Infant; Intellectual Disability | 1969 |
[Case of Lowe's oculo-cerebro-renal syndrome with vitamin D-resistant rickets].
Topics: Ammonia; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Hypophosphatemia, Familial; Intel | 1972 |
Argininosuccinicaciduria: clinical, metabolic and dietary study.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Ataxia; Child | 1974 |
Letter: hyperlysinaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Electroencephalography; | 1974 |
[Extensive palmar and plantar fibrosis in a case of Lowe's syndrome].
Topics: Adult; Ammonia; Eye Diseases; Fibromyalgia; Growth Disorders; Humans; Intellectual Disability; Intes | 1973 |
[The histological findings of tubular insufficiency in galactosemia, hereditary fructose intolerance, and oculocerebro-renal syndrome (Lowe-syndrome) (author's transl].
Topics: Ammonia; Autopsy; Carbohydrate Metabolism, Inborn Errors; Female; Fructose; Galactosemias; Growth Di | 1973 |
Ophthalmological and genetic considerations on a case of Lowe's syndrome.
Topics: Ammonia; Child, Preschool; Corneal Dystrophies, Hereditary; Eye Diseases; Genetic Counseling; Growth | 1972 |
[Congenital disorders in the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Humans; Intellectual Disability; Mal | 1972 |
Oculocerebrorenal syndrome. (Lowe syndrome).
Topics: Ammonia; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Intellectual Disability; Intestin | 1972 |
Lowe's syndrome. A clinical study of four cases.
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal Absorpt | 1972 |
Lowe's syndrome. With particular reference to the carrier state.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Eye Diseases; Female; Growth Disorders; Humans; | 1972 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Mapl | 1972 |
Lowes syndrome.
Topics: Ammonia; Brain; Eye; Eye Diseases; Female; Growth Disorders; Humans; Infant; Infant, Newborn; Intell | 1973 |
[Argininosuccinic aciduria with and without hyperammoniemia. Study of 2 cases].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Child Behavior Disorders; Child, | 1973 |
[Case of Lowe's oculo-cerebro-renal syndrome].
Topics: Ammonia; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Intellectual Disability; Intestin | 1973 |
A possible case of oculo-cerebro-renal (Lowe's) syndrome in a female infant.
Topics: Abnormalities, Multiple; Ammonia; Autopsy; Cataract; Eye; Eye Diseases; Female; Growth Disorders; Hu | 1973 |
Lowe's syndrome. Absence of amino acid transport defect in cultured fibroblasts.
Topics: Ammonia; Biological Transport; Carbon Radioisotopes; Culture Techniques; Eye Diseases; Fibroblasts; | 1973 |
[Anatomo-clinical correlations in some metabolic and tumoral ocular diseases].
Topics: Adult; Ammonia; Brain Neoplasms; Cataract; Child; Child, Preschool; Ciliary Body; Eye; Eye Diseases; | 1973 |
[Lowe's oculo-cerebro-renal syndrome].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant, Newborn; Intellectual Disability; Intestina | 1973 |
[An autopsy case of juvenile hepato-cerebral degeneration (non-Wilsonian Inose-type) with mental retardation, with special reference to ammonia and amino acids metabolism (author's transl)].
Topics: Adolescent; Adult; Amino Acids; Ammonia; Autopsy; Brain; Cerebellum; Electroencephalography; Hepatol | 1973 |
Morbid changes in Lowe's oculo-cerebro-renal syndrome.
Topics: Ammonia; Atrophy; Brain Diseases; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Infant; | 1973 |
The neuropathology of a peculiar form of cerebro-renal syndrome in a child.
Topics: Acidosis; Ammonia; Atrophy; Bone Diseases; Brain; Brain Diseases; Cerebellum; Eye Diseases; Growth D | 1973 |
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Dietary Proteins; Female | 1974 |
Central nervous system lesions in disorders of amino-acid metabolism. A neuropathological study.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Central Nervous System; Chi | 1972 |
Oculo-cerebro-renal syndrome. A four generation family study and case reports of two living children.
Topics: Ammonia; Electrolytes; Eye Diseases; Genes; Growth Disorders; Humans; Infant, Newborn; Intellectual | 1972 |
[5-year follow-up of a child with an ophthalmo-cerebro-renal syndrome].
Topics: Age Factors; Ammonia; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Intellectual Disabil | 1972 |
Hyperlysinuria with hyperammonemia. A new metabolic disorder.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Diet Therapy; Growth Disorders; | 1972 |
Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis.
Topics: Adult; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Fibroblasts; Humans; Intellectual Disabil | 1972 |
[Lowe's syndrome. The oculo-cerebro-renal syndrome].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; | 1972 |
[Oculo-cerebro-renal syndrome of Lowe. (Description of a case)].
Topics: Ammonia; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Intellectual Disability; Intestin | 1972 |
[Ophthalmo-cerebro-renal syndrome (OCR) in an infant 6 weeks old].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal Absorpt | 1972 |
[Lowe's syndrome in a 7-month-old infant (dystrophia oculo-cerebro-renalis)].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal Absorpt | 1971 |
[Renal function disorders in congenital metabolic abnormalities. 2. Renal function disorders in Lowe's and de Toni-Fanconi syndrome].
Topics: Ammonia; Child; Eye Diseases; Fanconi Syndrome; Female; Genes, Recessive; Growth Disorders; Humans; | 1971 |
[Isolation and identification of a new urinary oxydative metabolite of homocystine].
Topics: Aminobutyrates; Ammonia; Chemical Phenomena; Chemistry; Child; Chromatography, Ion Exchange; Chromat | 1971 |
The ellipsoids (sheaths of Schweigger-Seidal) of the human spleen in various pathological conditions.
Topics: Ammonia; Eye Diseases; Growth Disorders; Hemolysis; Humans; Intellectual Disability; Intestinal Abso | 1971 |
[Indications of renal and intestinal amino acid malabsorption in Lowe's syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child, Preschool; Chromatography; Electr | 1971 |
[Lowe's syndrome. A new case].
Topics: Adolescent; Alkalies; Ammonia; Calcium; Dwarfism; Eye Diseases; Growth Disorders; Humans; Intellectu | 1971 |
[Lowe's oculo-cerebro-renal syndrome (histologic ocular study of 2 cases)].
Topics: Ammonia; Cataract; Eye Diseases; Glaucoma; Growth Disorders; Humans; Infant; Infant, Newborn; Intell | 1971 |
[Neuropathology of Lowe's syndrome and of oculo-cerebro-renal syndromes].
Topics: Ammonia; Brain; Eye Diseases; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disabi | 1971 |
The oculo-cerebro-renal dystrophy of Lowe.
Topics: Ammonia; Cataract; Corneal Opacity; Eye Diseases; Glaucoma; Humans; Infant, Newborn; Intellectual Di | 1966 |
Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.
Topics: Ammonia; Coma; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Liver; Metabolism, Inb | 1969 |
Oculo-cerebro-renal syndrome. Report of a case in a baby girl.
Topics: Ammonia; Cataract; Female; Glaucoma; Growth Disorders; Humans; Hydroxyproline; Infant; Infant, Newbo | 1970 |
Renal function and morphology in a girl with oculocerebrorenal syndrome.
Topics: Abnormalities, Multiple; Ammonia; Biopsy; Black or African American; Eye Diseases; Female; Growth Di | 1970 |
Ornithine loading test in Lowe's syndrome.
Topics: Abnormalities, Multiple; Amino Acids; Ammonia; Chromosome Aberrations; Chromosome Disorders; Eye Dis | 1970 |
Ultraviolet-absorbing components of urine from mentally retarded children. 3.
Topics: Adolescent; Adult; Ammonia; Autistic Disorder; Central Nervous System Diseases; Child; Child, Presch | 1970 |
The Lowe syndrome. Observations on the amino acid metabolism in a 2-year-old affected boy.
Topics: Amino Acids; Ammonia; Blindness; Chromatography, Ion Exchange; Eye Diseases; Glaucoma; Growth Disord | 1970 |
[Lowe's syndrome].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal Absorpt | 1970 |
[Lowe's oculo-cerebro-renal syndrome. Neuropathological contribution].
Topics: Ammonia; Atrophy; Brain; Child; Demyelinating Diseases; Eye Diseases; Growth Disorders; Humans; Inte | 1970 |
[Etiology and pathogenesis of Lowe's syndrome].
Topics: Ammonia; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Intellectual Disability; Intestin | 1971 |
[Oculo-cerebro-renal syndrome (Lowe's syndrome)].
Topics: Ammonia; Child; Child, Preschool; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disab | 1971 |
The oculo-cerebro-renal syndrome of Lowe in four generations of one family.
Topics: Adolescent; Adult; Ammonia; Blood Group Antigens; Child; Child, Preschool; Eye Diseases; Female; Gro | 1971 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Tran | 1971 |
[Oculo-cerebro-renal syndrome (Lowe's syndrome): clinical study of a case].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal Absorpt | 1971 |
[Case of Lowe's syndrome in an infant].
Topics: Ammonia; Eye Diseases; Growth Disorders; Humans; Infant; Intellectual Disability; Intestinal Absorpt | 1971 |
Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Bone Development; Chronic Disease | 1968 |
Neurological abnormalities in primary hyperammonaemia.
Topics: Ammonia; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Intellectual Disability; Lysine; Me | 1968 |
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
Topics: Alanine; Amino Acids; Ammonia; Arginine; Citrates; Citric Acid Cycle; Diet Therapy; Dietary Proteins | 1969 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ataxia; Child, Preschool; Citrulline; Di | 1969 |
Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Aspartic Acid; Brain; Cerebell | 1969 |