{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T17:31:29Z","timestamp":1695749489836},"reference-count":24,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1980,6,1]]},"DOI":"10.1136\/adc.55.6.482","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:33:49Z","timestamp":1229981629000},"page":"482-484","source":"Crossref","is-referenced-by-count":2,"title":["alpha-Thalassaemia and hyperbilirubinaemia in G-6-PD-deficient newborns."],"prefix":"10.1136","volume":"55","author":[{"given":"T","family":"Meloni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Corti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Mele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Franca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1136\/adc.46.250.783","article-title":"A growth chart for premature and other infants","volume":"46","author":"Gairdner, D.; Pearson, J.","year":"1971","unstructured":"Gairdner D, Pearson J. A growth chart for premature and other infants. Arch Dis Child 1971; 46: 783-7.","journal-title":"Arch Dis Child"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1136\/adc.40.214.672","article-title":"Head circumference of infants related to body weight","volume":"40","author":"S, Illingworth R.; W, Lutz","year":"1965","unstructured":"Illingworth R S, Lutz W. Head circumference of infants related to body weight. Arch Dis Child 1965; 40: 672-6.","journal-title":"Arch Dis Child"},{"key":"ref_3","first-page":"572","article-title":"Head shape and size of newborn infants","volume":"13","author":"D, Baum J.; D, Searls","year":"1971","unstructured":"Baum J D, Searls D. Head shape and size of newborn infants. Dev Med Child Neurol 1971; 13: 572-5.","journal-title":"Dev Med Child Neurol"},{"key":"ref_4","article-title":"The development of the infant and young child","volume-title":"Textbook of pediatrics","author":"lllingworth R S","unstructured":"lllingworth R S. The development of the infant and young child. 5th ed. Edinburgh: Churchill Livingstone, 1972: 135. Nelson W E. Textbook of pediatrics. 8th ed. Philadelphia: Saunders, 1964: 48.","edition":"5th ed."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1136\/adc.45.242.566","article-title":"Standards for birthweight at gestation periods from 32 to 42 weeks, allowing for maternal height and weight","volume":"45","author":"M, Tanner J.; M, Thomson A.","year":"1970","unstructured":"Tanner J M, Thomson A M. Standards for birthweight at gestation periods from 32 to 42 weeks, allowing for maternal height and weight. Arch Dis Child 1970; 45: 566-9.","journal-title":"Arch Dis Child"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1136\/adc.45.244.755","article-title":"Standards for children's height at ages 2-9 years allowing for height of parents","volume":"45","author":"M, Tanner J.; H, Goldstein; H, Whitehouse R.","year":"1970","unstructured":"Tanner J M, Goldstein H, Whitehouse R H. Standards for children's height at ages 2-9 years allowing for height of parents. Arch Dis Child 1970; 45: 755-62.","journal-title":"Arch Dis Child"},{"key":"ref_7","article-title":"Chinese,5 in whom ac-thalassaemia is also common. result to the test a diagnosis of heterozygosity or This study was designed to confirm or refute the homozygosity was made using the cytochemical association of c-thalassaemia and neonatal hypermethod of Sansone et al.7 Diagnosis of cxbilirubinaemia in G-6-PD-deficient newborn infants. thalassaemia was made by demonstrating Hb Bart's electrophoretically on cellogel strips. Bilirubin Materials and methods determination was by the Malloy and Evelyn method.8","unstructured":"Chinese,5 in whom ac-thalassaemia is also common. result to the test a diagnosis of heterozygosity or This study was designed to confirm or refute the homozygosity was made using the cytochemical association of c-thalassaemia and neonatal hypermethod of Sansone et al.7 Diagnosis of cxbilirubinaemia in G-6-PD-deficient newborn infants. thalassaemia was made by demonstrating Hb Bart's electrophoretically on cellogel strips. Bilirubin Materials and methods determination was by the Malloy and Evelyn method.8"},{"key":"ref_8","article-title":"term infants (5468 girls, 5692 boys) born at the","volume-title":"Obstetrics Results and Gynaecology, during a 5-year period (from 1973 to 1978) were screened for G-6-PD deficiency and Results are reported in the Table and Figure","author":"University of Sassari, Department of","unstructured":"160 term infants (5468 girls, 5692 boys) born at the University of Sassari, Department of Obstetrics Results and Gynaecology, during a 5-year period (from 1973 to 1978) were screened for G-6-PD deficiency and Results are reported in the Table and Figure."},{"key":"ref_9","first-page":"1547","article-title":"Neonatal hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency","volume":"9","author":"Milbauer, B.; Peled, N.; Svirsky, S.","year":"1973","unstructured":"Milbauer B, Peled N, Svirsky S. Neonatal hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency. Isr J Med Sci 1973; 9: 1547-52.","journal-title":"Isr J Med Sci"},{"key":"ref_10","first-page":"350","article-title":"Glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Chinese male infants in Hong Kong","volume":"1","author":"K, Yue P.C.; M, Strickland","year":"1965","unstructured":"Yue P C K, Strickland M. Glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Chinese male infants in Hong Kong. Lancet 1965; 1: 350-1.","journal-title":"Lancet"},{"issue":"3","key":"ref_11","first-page":"448","article-title":"Incidence and mechanism of neonatal jaundice related to glucose-6-phosphate dehydrogenase deficiency","volume":"1969","author":"Valaes, T.; Karaklis, A.; Stravrakakis, D.; Bavela-Stravrakakis, K.; Perakis, A.; A, Dioxiadis S.","unstructured":"Valaes T, Karaklis A, Stravrakakis D, Bavela-Stravrakakis K, Perakis A, Dioxiadis S A. Incidence and mechanism of neonatal jaundice related to glucose-6-phosphate dehydrogenase deficiency. Pediatr Res 1969; 3: 448-58.","journal-title":"Pediatr Res"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1542\/peds.37.6.994","article-title":"Increased incidence of severe hyperbilirubinemia among newborn Chinese infants with G-6-PD deficiency","volume":"37","author":"Lu, T.-C.; Lee, T.-C.; Chen, C.-L.","year":"1966","unstructured":"Lu T-C, Lee T-C, Chen C-L. Increased incidence of severe hyperbilirubinemia among newborn Chinese infants with G-6-PD deficiency. Pediatrics 1966; 37: 994-9.","journal-title":"Pediatrics"},{"key":"ref_13","article-title":"G-6-PD deficiency and related disorders of the pentose pathway","volume-title":"Hematology of infancy and childhood","author":"Piomelli, S.","year":"1974","unstructured":"Piomelli S. G-6-PD deficiency and related disorders of the pentose pathway. In: Nathan D G, Oski F A, eds. Hematology of infancy and childhood, Philadelphia: Saunders, 1974; 365."},{"issue":"22","key":"ref_14","first-page":"633","article-title":"Methaemoglobin reduction test. A new simple in vitro test for indentifying primaquine sensitivity","volume":"1960","author":"J, Brewer G.; R, Tarlov A.; S, Alving","unstructured":"Brewer G J, Tarlov A R, Alving S. Methaemoglobin reduction test. A new simple in vitro test for indentifying primaquine sensitivity. Bull WHO 1960; 22: 633-40.","journal-title":"Bull WHO"},{"key":"ref_15","first-page":"371","article-title":"Dimostrazione su strisci di sangue di una doppia popolazione eritrocitaria nelle donne ete rozigoti per","volume-title":"la deficienza in glucosio-6-P-deidrogenasi. Pathologica 1963","volume":"55","author":"Sansone, G.; Rasore-Quartino, A.; Veneziano, G.","unstructured":"Sansone G, Rasore-Quartino A, Veneziano G. Dimostrazione su strisci di sangue di una doppia popolazione eritrocitaria nelle donne ete rozigoti per la deficienza in glucosio-6-P-deidrogenasi. Pathologica 1963; 55: 371-5."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0021-9258(18)74392-5","article-title":"Determination of bilirubin with the photoelectric colorimeter","volume":"119","author":"T, Malloy H.; A, Evelyn K.","year":"1937","unstructured":"Malloy H T, Evelyn K A. Determination of bilirubin with the photoelectric colorimeter. J Biol Chem 1937; 119: 481-90.","journal-title":"J Biol Chem"},{"key":"ref_17","first-page":"323","article-title":"Salicylamide glucuronide formation in newborns with severe jaundice of unknown etiology and due to glucose-6phosphate dehydrogenase deficiency in Greece","volume":"28","author":"Malaka-Zafiriu, K.; Tsiures, I.; Danielides, B.; Cassimos, C.","year":"1973","unstructured":"Malaka-Zafiriu K, Tsiures I, Danielides B, Cassimos C. Salicylamide glucuronide formation in newborns with severe jaundice of unknown etiology and due to glucose-6phosphate dehydrogenase deficiency in Greece. Helv Paediatr Acta 1973; 28: 323-9.","journal-title":"Helv Paediatr Acta"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1159\/000241071","article-title":"Salicylamide glucuronide formation in newborn babies with G-6-PD deficiency","volume":"33","author":"Meloni, T.; Costa, S.; Corti, R.; Cutillo, S.","year":"1978","unstructured":"Meloni T, Costa S, Corti R, Cutillo S. Salicylamide glucuronide formation in newborn babies with G-6-PD deficiency. Biol Neonate 1978; 33: 189-92.","journal-title":"Biol Neonate"},{"key":"ref_19","first-page":"783","article-title":"Genetically determined deficiency of glucose-6-phosphate dehydrogenase (type A-) is expressed in the liver","volume":"93","year":"1979","unstructured":"Oluboyede 0 A, Esan G J F, Francis T I, Luzzatto L. Genetically determined deficiency of glucose-6-phosphate dehydrogenase (type A-) is expressed in the liver. J Lab Clin Med 1979; 93: 783-9.","journal-title":"J Lab Clin Med"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1126\/science.171.3969.409","article-title":"Favism association with erythrocyte acid phosphatase phenotype","volume":"171","author":"Bottini, E.; Lucarelli, P.; Agostino, R.; Palmarino, R.; Businco, L.; Antognoni, F.","year":"1971","unstructured":"Bottini E, Lucarelli P, Agostino R, Palmarino R, Businco L, Antognoni F. Favism association with erythrocyte acid phosphatase phenotype. Science 1971; 171: 409-11.","journal-title":"Science"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0022-3476(77)80397-1","article-title":"Letter: Glucose-6phosphate dehydrogenase deficiency in immigrant Greek infants","volume":"90","author":"H, Drew J.; B, Smith M.; H, Kitchen W.","year":"1977","unstructured":"Drew J H, Smith M B, Kitchen W H. Letter: Glucose-6phosphate dehydrogenase deficiency in immigrant Greek infants. JPediatr 1977; 90: 659-60.","journal-title":"JPediatr"},{"key":"ref_22","first-page":"209","article-title":"Neonatal jaundice in Ibadan: incidence and etiological factors in babies born in hospital","volume":"67","author":"E, Effiong C.; E, Aimaku V.; U, Bienzle; A, Oyedeji G.; lbezi G; E, Ikpe D.","year":"1975","unstructured":"Effiong C E, Aimaku V E, Bienzle U, Oyedeji G A, lbezi G, Ikpe D E. Neonatal jaundice in Ibadan: incidence and etiological factors in babies born in hospital. J Natl Med Assoc 1975; 67: 209-13.","journal-title":"J Natl Med Assoc"},{"key":"ref_23","article-title":"Hydroxyprolinaemia is a metabolic disorder, characterised by an increase in free hydroxyproline in plasma and urine with a normal excretion of peptide-bound hydroxyproline. The disorder was first described in 1962 in a 12-year-old girl investigated for mental retardation.1-2 Two further cases (a 7-year-old girl3 and an 8-year-old boy4) in which the condition was also associated with mental retardation were described subsequently. The discovery of the disorder in 2 adult siblings of normal intelligence5 refuted the initial suggestion that mental retardation was a necessary feature of the disorder. This 6th case of hydroxyprolinaemia was diagnosed in a 6-week-old boy who has shown normal development subsequently. This supports the idea that the condition due to deficiency of hydroxyproline oxidase is benign; if mental retardation is present, it is likely to be due to other causes","unstructured":"Hydroxyprolinaemia is a metabolic disorder, characterised by an increase in free hydroxyproline in plasma and urine with a normal excretion of peptide-bound hydroxyproline. The disorder was first described in 1962 in a 12-year-old girl investigated for mental retardation.1-2 Two further cases (a 7-year-old girl3 and an 8-year-old boy4) in which the condition was also associated with mental retardation were described subsequently. The discovery of the disorder in 2 adult siblings of normal intelligence5 refuted the initial suggestion that mental retardation was a necessary feature of the disorder. This 6th case of hydroxyprolinaemia was diagnosed in a 6-week-old boy who has shown normal development subsequently. This supports the idea that the condition due to deficiency of hydroxyproline oxidase is benign; if mental retardation is present, it is likely to be due to other causes."},{"issue":"23","key":"ref_24","first-page":"100","article-title":"Case report Our patient was the first child ofa healthy 13-year-old girl of West Indian extraction. The father was the girl's brother. The baby was born at term weighing 2-86 kg after a normal pregnancy. Examination showed bilateral single palmar creases and a soft apical systolic murmur. Amino-acid chromatography performed because of consanguinity showed a high level of plasma hydroxyproline. Quantitative analysis using a TSM amino-acid analyser* showed a plasma hydroxyproline level of 300, mol\/l; 3*4 mg\/ 100 ml","volume-title":"ml). Urine hydroxyproline excretion was","volume":"0","author":"umol\/24h; 262 mg\/24h 180 Vmol\/24h; 23 6 mg\/24h). umol\/l; 068-1 36 mg\/100","year":"2000","unstructured":"Case report Our patient was the first child ofa healthy 13-year-old girl of West Indian extraction. The father was the girl's brother. The baby was born at term weighing 2 - 86 kg after a normal pregnancy. Examination showed bilateral single palmar creases and a soft apical systolic murmur. Amino-acid chromatography performed because of consanguinity showed a high level of plasma hydroxyproline. Quantitative analysis using a TSM amino-acid analyser* showed a plasma hydroxyproline level of 300,mol\/l; 3*4 mg\/ 100 ml (normal, <20,umol\/l; <0-23 mg\/100 ml). Urine hydroxyproline excretion was 2000,umol\/24h; 262 mg\/24h (normal, up to 180 Vmol\/24h; 23 6 mg\/24h). There was no microscopical haematuria and the serum creatinine level was 50 Vmol\/l; 0 * 56 mg\/100 ml (normal, 60-120,umol\/l; 068-1 36 mg\/100 ml). The chromosome complement was"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.55.6.482","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T03:43:22Z","timestamp":1684813402000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.55.6.482"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,6,1]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1980,6,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.55.6.482","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,6,1]]}}}