 | George N DonnellChildrens Hospital Los Angeles and Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California | Department of Pediatrics, ... |
KOL Resume for George N Donnell (propionic acid derivatives, acid, analgesic, propionic, derivatives)
| Year | |
|---|---|
| 2003 | Childrens Hospital Los Angeles and Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California |
| 1995 | Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, CA, USA |
| 1994 | Childrens Hospital Los Angeles and Department of Pediatrics, University of Southern California School of Medicine, 90027, Los Angeles, CA, USA |
| 1993 | Division of Medical Genetics Childrens Hospital Los Angeles Department of Pediatrics University of Southern California School of Medicine Los Angeles, CA 90099 USA Department of Pediatrics, Childrens Hospital of Los Angeles, University of Southern California School of Medicine, Los Angeles, California |
| 1991 | Division of Medical Genetics and Endocrinology and Metabolism Department of Pediatrics Childrens Hospital Los Angeles and University of Southern California School of Medicine Los Angeles, CA 90027, USA |
| 1990 | Division of Medical Genetics and Endocrinology and Metabolism Childrens Hospital of Los Angeles University of Southern California School of Medicine Los Angeles, CA 90027 USA |
| 1989 | University of Southern California Women's Hospital, Guangzhou, China Southern California School of Medicine and Children's Hospital of Los Angeles, USA Department of Pediatrics, 90033, Los Angeles, California |
| 1988 | Division of Metabolism and Medical Genetics, University of Southern California School of Medicine Los Angeles USA |
| 1987 | University of Southern California (USC) School of Medicine, Los Angeles, California |
| 1986 | Department of Pediatrics of the University of Southern California, School of Medicine, Los Angeles, California, USA |
| 1985 | Division of Medical Genetics, Children's Hospital of Los Angeles, PO Box 54700, Los Angeles, California, 90054, USA |
| 1984 | Department of Pediatrics, University of Southern California School of Medicine and Division of Medical Genetics, Children’s Hospital of Los Angeles, Los Angeles, Calif., and, Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J. |
| 1983 | Department of Pediatrics, Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California Medical Genetics Division, Childrens Hospital of Los Angeles, P.O. Box 54700, Los Angeles, CA, 90054, USA |
| 1981 | Medical Genetics Division, Childrens Hospital of Los Angeles, Los Angeles, California 90027 USA |
| 1980 | Los Angeles, Calif |
| 1979 | Division of Medical Genetics, Childrens Hospital of Los Angeles, Los Angeles, CA 90054, U.S.A. Department of Pediatrics, School of Medicine, University of Southern California, USA department of pediatrics of the University of Southern California School of Medicine and the Childrens Hospital of Los Angeles, Los Angeles, California |
| 1978 | Childrens Hospital of Los Angeles, Los Angeles, Ca. and University of Colorado Medical Center, Denver, Co The Department of Pediatrics, School of Medicine, University of Southern California, USA |
| 1977 | Division of Medical Genetics, Children’s Hospital of Los Angeles, Los Angeles, Calif., and, Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J. |
| 1976 | Department of Pediatrics, Childrens Hospital of Los Angeles and University of Southern California School of Medicine, USA |
| 1975 | Division of Medical Genetics, Childrens Hospital of Los Angeles, Los Angeles, Calif.U.S.A. |
| 1973 | Departments of Biochemistry and of Pediatrics, School of Medicine, University of Southern California, Calif. U.S.A. the Endocrine-Metabolic Division Hospital of Los Angeles, Los Angeles, California 90027 USA 4650 Sunset Boulevard, Los Angeles, Calif. 90054 |
| 1972 | Hospital for Sick Children, London Departments of Pediatrics, University of California, San Diego, La Jolla, Calif, U.S.A |
| 1971 | Department of Biochemistry of the School of Medicine, University of Southern California, Los Angeles, Calif. USA |
| 1970 | Department of Surgery, University of Southern California, Los Angeles, Calif., USA Los Angeles, California U.S.A. |
| 1969 | Department of Pediatrics, University of Southern California, Los Angeles, Calif, USA |
| 1968 | Department of Pathology, University of Southern California School of Medicine, Los Angeles, Calif. USA Pediatrics and Pathology, University of Southern California School of Medicine and the Childrens Hospital of Los Angeles |
| 1967 | Department of Biochemistry, School of Medicine, University of Southern California, Los Angeles, California 90027 USA |
| 1966 | Department of Pediatrics, University of Southern California, The Children's Hospital of Los Angeles, and Los Angeles County General Hospital, 1200 North State Street, Los Angeles, California 90033 Division of Metabolism of the Children's Hospitalof Los Angeles, Los Angeles, Calif., USA |
| 1965 | Divisions of Child Development and Metabolism of the Children's Hospital, Los Angeles, Department of Pediatrics, University of Southern California School of Medicine |
| 1964 | From the Departments of Pediatrics, Urology and Pathology at Childrens Hospital of Los Angeles, University of Southern California School of Medicine and Loma Linda University, Los Angeles, California Biochemistry and Metabolic Research Divisions, Childrens Hospital, Los Angeles, Calif.U.S.A. |
| 1963 | Department of Pediatrics, University of Southern California School of Medicine, White Memorial Hospital, Loma Linda University, and Childrens Hospital of Los Angeles |
| 1962 | Departments of Biochemistry and Pediatrics, School of Medicine, University of Southern Galiformia and the Divisions of Biochemistry and of Metabolic Research, Childrens Hospital, Los Angeles |
Prominent publications by George N Donnell
The levels of uridine diphosphate galactose (UDPGal) and uridine diphosphate glucose (UDPGlc) have been determined in liver autopsy samples, erythrocytes and cultured skin fibroblasts from galactosaemic patients and compared to non-galactosaemic controls. In patients with undetectable erythrocyte galactose-1-phosphate uridyltransferase (transferase) activity, the levels of UDPGal were substantially lower than in controls. In patients with detectable transferase activity, even though in ...
| Known for Uridine Diphosphate | Galactosaemic Patients | Levels Udpgal | Ovarian Failure | Normal Individuals |
The Oxidation of Glycine and Propionic Acid in Propionic Acidemia with Ketotic Hyperglycinemia
[ PUBLICATION ]
Extract: Ketotic hyperglycinemia is a syndrome in which elevated concentrations of glycine occur in body fluids of patients who manifest life-threatening episodes of ketoacidosis very early in life. The disorder originally described under this heading is now known to be more reliably categorized by propionic acidemia than by hyperglycinemia. Studies of the metabolism of glycine and of propionate in this condition have been undertaken. Conversion of glycine-1-14C and of propionate-1-14C ...
| Known for Propionic Acidemia | Ketotic Hyperglycinemia | Metabolism Patients | Oxidation Propionate | Body Fluids |
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase A study of a family
[ PUBLICATION ]
Four patients in a kindred who have had hyperuricemia, uric acid crystalluria and stones, were found to have partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity. The pattern of inheritance is consistent with the observation that the activity of HGPRT is determined by a gene on the X chromosome. The patients have normal intelligence, do not display self-mutilation and do not have gouty arthritis. In two patients, both children, confirmatory evidence of ...
| Known for Partial Deficiency | Purine Metabolism | Uric Acid | Hypoxanthine Guanine | Hgprt Enzyme |
Introduction IN 1959 Norman et al1 described a patient with a specific form of amaurotic idiocy which they called "Tay-Sachs Disease With Visceral Involvement." In this patient the clinical and pathological picture resembled Tay-Sachs disease, plus accumulation of lipid-laden histiocytes in liver, spleen, thymus, and other organs. Their patient's case differed chemically from Niemann-Pick disease, in which there is also combined neural and visceral involvement, in that the stored ...
| Known for Generalized Gangliosidosis | Inborn Error | Ganglioside Metabolism | Taysachs Disease | Liver Spleen |
IN THE ever widening field of congenital metabolic defects, those characterized by mental retardation have attracted special interest.1 In some of these conditions the defect has been defined (galactosemia, phenylketonuria, maple syrup disease), resulting in more enlightened management. In others, effective therapy awaits more thorough understanding of the syndrome. The oculo-cerebro-renal (O-C-R) syndrome first described by Lowe in 19522 falls into the latter group. It is a congenital, ...
| Known for Renal Syndrome | Mental Retardation | Inborn Errors | Ammonium Chloride | Metabolic Acidosis |
We evaluated gonadal function in 18 female and eight male patients with galactosemia due to transferase deficiency; it was normal in the males, but 12 females had signs of hypergonadotropic hypogonadism. All female patients had a 46,XX karyotype, normal levels of thyroid hormone and prolactin, and no anti-ovarian antibodies. The biologic activity of urinary gonadotropins was normal. Ultrasonography of the pelvis revealed that ovarian tissue was diminished or absent. Total estrogens ...
| Known for Hypergonadotropic Hypogonadism | Ovarian Function | Galactosemias Gonadotropins | Neonatal Period | Dietary Treatment |
We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R mutation constituted 67% of the alleles. In patients with detectable GALT activity (GV), only 16% of the alleles were accounted for by Q188R. In all patients who were homozygous for the Q188R ...
| Known for Q188r Mutation | Galt Activity | Uridine Diphosphate | Sequence Child | Caucasian Hispanic Patients |
Plasma concentrations of propionic acid were determined in 3 patients with ketotic hyperglycinemia and in control individuals. The patients were all in remission. Only 2 had elevated concentrations of glycine in the blood at the time of the study. Propionic acidemia was found in all 3 patients. The concentrations of propionic acid were 10 to 20 times the median of control subjects. It is concluded that propionic acidemia may be a more consistent feature of this disorder than ...
| Known for Propionic Acidemia | Ketotic Hyperglycinemia | Preschool Chromatography | 3 Patients | Female Glycine Humans |
A sensitive radioisotopic method has been developed which can detect galactose-1-phosphate uridyltransferase (GALT) activity as low as 0.1% of normal control values in both erythrocytes and leukocytes. This assay utilizes carbon-14 labeled galactose-1-phosphate with high specific activity and requires removal of endogenous galactose-1-phosphate (Gal-1-P) and uridine diphosphate glucose (UDPGlc) through dialysis. Optimal exogenous UDPGlc concentration has been determined with a fixed ...
| Known for Galactosemia Patients | Galt Activity | Uridine Diphosphate | Galactose1 Phosphate | Sensitivity Specificity |
Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose-1-phosphate (Gal-1-P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian failure documented at the beginning of this study continued to have either primary or secondary amenorrhoea on follow-up. Five of six patients, who previously had normal ...
| Known for Gonadal Function | Ovarian Failure | 12 Males | Galactose Metabolites | Female Follicle |
Recently many clinical syndromes have been described, characterized by renal tubular dysfunction as a major disturbance.1-7 In some cases, tubular reabsorption of single substances is defective, e. g., water, glucose, amino acids, or phosphorus. In others, deficient reabsorption affects several materials, usually combinations of those enumerated.Loss of cation is rare as a primary or isolated defect in tubular absorption, although it is not uncommon in association with other absorptive ...
| Known for Renal Tubular | Salt Wasting | Sodium Loss | Hyperkalemia Hyponatremia | Clinical Syndromes |
The literature on pseudohypoparathyroidism is reviewed with special emphasis on the association of this disorder with hypothyroidism. A case of pseudohypoparathyroidism with hypothyroidism in a 10-year-old girl is reported. Obesity and mental retardation were the presenting symptoms. The characteristic physical, laboratory, and roentgenological findings of pseudohypoparathyroidism were present. The lack of parathyroid effect was indicated by the persistent elevated concentration of ...
| Known for Pseudohypoparathyroidism Hypothyroidism | Serum Values | Thyroid Function | Mental Retardation | Inorganic Phosphorus |
THE ASSOCIATION of hyperuricemia with glycogen-storage disease (GSD) type 1 or von Gierke's disease has been described in 20 patients.1 In some of these patients gouty arthropathy and nephropathy have occurred.2-4 The mechanism responsible for hyperuricemia has not been delineated, but is thought to result from altered renal tubular function.5 Normally, 90%-95% of the uric acid which is filtered at the glomeruli is reabsorbed by the proximal renal tubules. The major portion which appears ...
| Known for Storage Disease | Uric Acid | Gsd Type | Glucose Glycogen |
George N Donnell: Influence Statistics
| Concept | World rank |
|---|---|
| yeast extract leloir1 | #1 |
| oxygenases tyrosine tyrosinosis | #1 |
| epimerase haemolysates | #1 |
| substantial epimerase | #1 |
| stromal nucleosidase | #1 |
| leloir1 | #1 |
| galactosemia evaluated | #1 |
| considerations hemolytic child | #1 |
| nadase activity negro | #1 |
| 100late inauguration | #1 |
| hemolyticuremic syndrome clinical | #1 |
| 2550 gm | #1 |
| child galactosemia | #1 |
| woman galactosemia | #1 |
| involved33 epimerase | #1 |
| intellectual abilities parents | #1 |
| leucine sensitive hypoglycemia | #1 |
| galactowaldenase yeast extract | #1 |
| electrophoresis hemolysates | #1 |
| crude human haemolysates3 | #1 |
| galactosemia presenting | #1 |
| treated galactosemia | #1 |
| considerable portion intracellular | #1 |
| adults udpgalactose4epimerase | #1 |
| twobanded epimerase pattern | #1 |
| calf liver preparation2 | #1 |
| birth 2550 gm | #1 |
| substantial epimerase activity | #1 |
| galactosemia studied | #1 |
| differences haemolysates | #1 |
| negro haemolysates | #1 |
| newborns2 pedigree | #1 |
| uracil nucleotides newborns | #1 |
| enzyme galactowaldenase | #1 |
| angeles april | #1 |
| pedigree nadase | #1 |
| epimerase absence | #1 |
| heterozygous galactosemia | #1 |
| urine galactosemia | #1 |
| 3 galactosemic | #1 |
| haemolysates newborns | #1 |
| tyrosinosis report | #1 |
| banded epimerase | #1 |
| erythrocyte nadase activity | #1 |
| haemolysates newborns2 | #1 |
| udpgalactose4epimerase epimerase | #1 |
| hungarian clinical center | #1 |
| mental handicaps adherence | #1 |
| nadase negro | #1 |
| hemolysates newborn | #1 |
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Key People For Uridine Diphosphate
George N Donnell:Expert Impact
Concepts for whichGeorge N Donnellhas direct influence:Uridine diphosphate, Propionic acidemia, Cultured skin fibroblasts, Galactosemia patients, Glycogen storage disease, Storage disease, Normal children, Hypergonadotropic hypogonadism.
George N Donnell:KOL impact
Concepts related to the work of other authors for whichfor which George N Donnell has influence:Classic galactosemia, Inborn errors, Galactose metabolism, Newborn screening, Nephrotic syndrome, Premature ovarian failure, Ovarian cancer.
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