scholarly article | Q13442814 |
review article | Q7318358 |
P356 | DOI | 10.1016/S0025-7125(16)32742-0 |
P698 | PubMed publication ID | 4892644 |
P50 | author | Charles R. Scriver | Q2960210 |
P2093 | author name string | C R Scriver | |
P2860 | cites work | tragedy of the commons | Q334622 |
An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism | Q72236061 | ||
The treatment of adult phosphate diabetes and Fanconi syndrome with neutral sodium phosphate | Q72316924 | ||
Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients | Q72360378 | ||
Total synthesis of an enzyme with ribonuclease A activity | Q72382741 | ||
The porphyrias | Q72383412 | ||
Familial predisposition in man | Q72383418 | ||
Cystathioninuria: nature of the defect | Q72545546 | ||
Procedures for monitoring the low-phenylalanine diet in treatment of phenylketonuria | Q72561644 | ||
Glucose-galactose malabsorption. Report of a case with autoradiographic studies of a mucosal biopsy | Q72759193 | ||
Semipermeable aqueous microcapsules. I. Preparation and properties | Q72852426 | ||
Neurological Defect: Manganese in Phenocopy and Prevention of a Genetic Abnormality of Inner Ear | Q72877964 | ||
Serial transplantation of embryonic nuclei | Q74511259 | ||
The diagnosis and management of the various types of rickets | Q77164131 | ||
ADVANCES IN THE MANAGEMENT OF PATIENT WITH PHENYLKETONURIA | Q78497745 | ||
Chemical structure in relation to biological activities of vitamin B6 | Q78535636 | ||
On a new, hereditary disorder in tryptophan metabolism dependent on vitamin B6 | Q78799236 | ||
IDU therapy of herpes simplex | Q78946264 | ||
Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase | Q79548073 | ||
The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria | Q29012842 | ||
Orthomolecular Psychiatry: Varying the concentrations of substances normally present in the human body may control mental disease | Q29039975 | ||
Familial selective malabsorption of vitamin B 12. Re-evaluation of an in vivo intrinsic-factor inhibitor | Q34237454 | ||
Population policy: will current programs succeed? Grounds for skepticism concerning the demographic effectiveness of family planning are considered | Q34244726 | ||
Studies on the metabolic error in Refsum's disease | Q34267158 | ||
Study of the Hurler syndrome using cell culture: definition of the biochemical phenotype and the effects of ascorbic acid on the mutant cell | Q34272120 | ||
Effect of sodium phenobarbital on bilirubin metabolism in an infant with congenital, nonhemolytic, unconjugated hyperbilirubinemia, and kernicterus | Q35566699 | ||
DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA). | Q36060331 | ||
Hurler's syndrome. Effect of retinol (vitamin A alcohol) on cellular mucopolysaccharides in cultured human skin fibroblasts | Q36268654 | ||
Inborn errors of amino-acid metabolism | Q39976349 | ||
Automated Synthesis of Peptides | Q40028088 | ||
Some Aspects of Perinatal Pharmacology | Q40035170 | ||
Maternal phenylketonuria: implications for growth and development | Q41939124 | ||
Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies | Q42962972 | ||
The Automatic Synthesis of Proteins | Q43815150 | ||
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency | Q45173336 | ||
Propionicacidemia, a New Inborn Error of Metabolism | Q49129201 | ||
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE. | Q50233577 | ||
Mental Retardation in Children of Phenylketonuric Mothers | Q52130386 | ||
The effect of retinol (vitamin-A alcohol) on urinary excretion of mucopolysaccharides in the Hurler syndrome. | Q53760383 | ||
Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. | Q54582049 | ||
Idiopathic Hypervalinemia | Q55982352 | ||
Semipermeable Microcapsules containing Catalase for Enzyme Replacement in Acatalasaemic Mice | Q59091904 | ||
Saccharopinuria: a New Inborn Error of Lysine Metabolism | Q59091979 | ||
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN | Q64053289 | ||
The genetic mucopolysaccharidoses | Q68375779 | ||
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts | Q68428517 | ||
Cystinuria | Q69855950 | ||
Uric acid nephrolithiasis | Q69855952 | ||
Prenatal detection of genetic defects | Q69862667 | ||
Prevention of rhesus iso-immunisation | Q70087427 | ||
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor | Q70092735 | ||
Calcium Carbimide in the Treatment of Primary Hyperoxaluria | Q71196038 | ||
Vitamin B6 dependent xanthurenic aciduria | Q71870850 | ||
Prevention of Wilson's Disease in Asymptomatic Patients | Q72017065 | ||
Cystinosis. Combined clinical staff conference at the National Institutes of Health | Q72031738 | ||
Long-term dietary treatment of tyrosinosis | Q72037875 | ||
Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency | Q72125350 | ||
Enhancement of glucuronide-conjugating capacity in a hyperbilirubinemic infant due to apparent enzyme induction by phenobarbital | Q72169069 | ||
Cystathioninuria not Associated with Vitamin B<sub>6</sub> Dependency: A Probably New Type of Cystathioninuria | Q72182977 | ||
Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34] | Q72234419 | ||
P433 | issue | 4 | |
P304 | page(s) | 941-963 | |
P577 | publication date | 1969-07-01 | |
P1433 | published in | Medical Clinics of North America | Q15761972 |
P1476 | title | Treatment of inherited disease: realized and potential | |
P478 | volume | 53 |
Q36991806 | Garrod, Galton, and clinical medicine |
Q39493784 | Immunogenicity and antigenicity of soluble cross-linked enzyme/albumin polymers: Advantages for enzyme therapy |
Q35926081 | Inborn errors of metabolism: principles and their applications |
Q50995187 | Molecular neuropathology |
Q39931784 | On the screening, diagnosis and investigation of hereditary aminoacidopathies |
Q35643100 | Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison. |
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