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LORNE SEARGEANT

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Cheryl R Greenberg; LA Dilling; G Robert Thompson; LORNE SEARGEANT; James C Haworth; Susan Phillips; Alicia Chan; Hilary D Vallance; Paula J Waters; Graham Sinclair; Yolanda Lillquist; Ronald J A Wanders; Simon E Olpin
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
Michael Weinstein; Els Schollen; Gert Matthijs; Christine Neupert; Thierry Hennet; Claudia E Grubenmann; Christian G Frank; Markus Aebi; Joe T R Clarke; Anne Griffiths; LORNE SEARGEANT; Nicola Poplawski
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Natalie K Björklund; Jane A Evans; Cheryl R Greenberg; LORNE SEARGEANT; Carol E Schneider; Bernard N Chodirker
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein.

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All Publications

2009: Cheryl R Greenberg; LA Dilling; G Robert Thompson; LORNE SEARGEANT; James C Haworth; Susan Phillips; Alicia Chan; Hilary D Vallance; Paula J Waters; Graham Sinclair; Yolanda Lillquist; Ronald J A Wanders; Simon E Olpin
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
Molecular genetics and metabolism 2009;96(4):201-7.
2005: Michael Weinstein; Els Schollen; Gert Matthijs; Christine Neupert; Thierry Hennet; Claudia E Grubenmann; Christian G Frank; Markus Aebi; Joe T R Clarke; Anne Griffiths; LORNE SEARGEANT; Nicola Poplawski
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
American journal of medical genetics. Part A 2005;136(2):194-7.
2004: Natalie K Björklund; Jane A Evans; Cheryl R Greenberg; LORNE SEARGEANT; Carol E Schneider; Bernard N Chodirker
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein.
Reproductive biology and endocrinology : RB&E 2004;2():65.
2002: Cheryl R Greenberg; Asuri N Prasad; LA Dilling; J R G Thompson; James C Haworth; B Martin; P Wood-Steiman; LORNE SEARGEANT; B Seifert; F A Booth; Chitra Prasad
Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.
Molecular genetics and metabolism 2002;75(1):70-8.
2000: A Micheil Innes; LORNE SEARGEANT; K Balachandra; C R Roe; R J Wanders; Jos P N Ruiter; Oscar Casiro; D A Grewar; Cheryl R Greenberg
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.
Pediatric research 2000;47(1):43-5.
1999: LORNE SEARGEANT; K Balachandra; C Mallory; LA Dilling; Cheryl R Greenberg
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.
Journal of inherited metabolic disease 1999;22(6):740-6.
1998: Edmond G Lemire; Bernard N Chodirker; GJ Williams; LORNE SEARGEANT; Sara J Israels; S M Phillips; J A de Nanassy; John M Maris; Rochelle Yanofsky
Familial neuroblastoma: report of a kindred with later age at diagnosis.
Journal of pediatric hematology/oncology 1998;20(5):489-93.
1998: M A Carbone; Neviana Mackay; M Ling; David E C Cole; C Douglas; B Rigat; Annette Feigenbaum; Joe T R Clarke; James C Haworth; Cheryl R Greenberg; LORNE SEARGEANT; Brian H Robinson
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
American journal of human genetics 1998;62(6):1312-9.
1997: A Laitinen; Marja Hietala; James C Haworth; M L Schroeder; LORNE SEARGEANT; Cheryl R Greenberg; Pertti Aula
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Clinical genetics 1997;51(3):174-8.
1995: Cheryl R Greenberg; D Reimer; R Singal; Barbara L Triggs-Raine; Albert E Chudley; L A Dilling; S Philipps; James C Haworth; LORNE SEARGEANT; S I Goodman
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
Human molecular genetics 1995;4(3):493-5.
1995: P Pianosi; LORNE SEARGEANT; J C Haworth
Blood lactate and pyruvate concentrations, and their ratio during exercise in healthy children: developmental perspective.
European journal of applied physiology and occupational physiology 1995;71(6):518-22.
1993: Cheryl R Greenberg; C L Taylor; James C Haworth; LORNE SEARGEANT; S Philipps; Barbara L Triggs-Raine; Bernard N Chodirker
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
Genomics 1993;17(1):215-7.
1993: James C Haworth; L A Dilling; R A Surtees; LORNE SEARGEANT; H Lue-Shing; B A Cooper; David S Rosenblatt
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers.
American journal of medical genetics 1993;45(5):572-6.
1992: James C Haworth; F Demaugre; F A Booth; L A Dilling; S P Moroz; S S Seshia; LORNE SEARGEANT; P M Coates
Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.
The Journal of pediatrics 1992;121(4):553-7.
1992: LORNE SEARGEANT; Albert E Chudley; L A Dilling; C J Mallory; James C Haworth
Carrier detection in glutaric aciduria type I using interleukin-2-dependent cultured lymphocytes.
Journal of inherited metabolic disease 1992;15(5):733-7.
1992: James C Haworth; LORNE SEARGEANT; L A Dilling
Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy.
Journal of inherited metabolic disease 1992;15(6):933-4.
1991: D H Morton; M J Bennett; LORNE SEARGEANT; C A Nichter; Richard I Kelley
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
American journal of medical genetics 1991;41(1):89-95.
1991: James C Haworth; L A Dilling; LORNE SEARGEANT
Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 1991;145(2):123-9.
1991: LORNE SEARGEANT; G W deGroot; L A Dilling; C J Mallory; James C Haworth
Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children.
The Journal of pediatrics 1991;118(6):912-4.
1990: Bernard N Chodirker; J A Evans; LORNE SEARGEANT; Mary Cheang; Cheryl R Greenberg
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.
American journal of human genetics 1990;46(2):280-5.
1990: Bernard N Chodirker; S P Coburn; LORNE SEARGEANT; M P Whyte; Cheryl R Greenberg
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia.
Journal of inherited metabolic disease 1990;13(6):891-6.
1989: Cheryl R Greenberg; L A Dilling; R Thompson; J D Ford; LORNE SEARGEANT; James C Haworth
Newborn screening for galactosemia: a new method used in Manitoba.
Pediatrics 1989;84(2):331-5.
1989: F A Booth; James C Haworth; L A Dilling; T L Perry; Cheryl R Greenberg; LORNE SEARGEANT; A M Penn; W J Rhead
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship.
The Journal of pediatrics 1989;115(1):81-8.
1987: LORNE SEARGEANT; N L Kobrinsky; C J Sus; D R Nazeravich
In vitro stability and compatibility of daunorubicin, cytarabine, and etoposide.
Cancer treatment reports 1987;71(12):1189-92.
1987: Bernard N Chodirker; J A Evans; M Lewis; Gail Coghlan; E Belcher; S Philipps; LORNE SEARGEANT; C Sus; Cheryl R Greenberg
Infantile hypophosphatasia--linkage with the RH locus.
Genomics 1987;1(3):280-2.
1985: M Ray; Albert E Chudley; N Christie; LORNE SEARGEANT
A case of de novo trisomy 12p syndrome.
Annales de génétique 1985;28(4):235-8.
1984: S Schuh; David S Rosenblatt; B A Cooper; M L Schroeder; A J Bishop; LORNE SEARGEANT; James C Haworth
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.
The New England journal of medicine 1984;310(11):686-90.
1981: R A Stinson; LORNE SEARGEANT
Comparative studies of pure alkaline phosphatases from five human tissues.
Clinica chimica acta; international journal of clinical chemistry 1981;110(2-3):261-72.
1979: LORNE SEARGEANT; R A Stinson
Evidence that three structural genes code for human alkaline phosphatases.
Nature 1979;281(5727):152-4.
1979: LORNE SEARGEANT; R A Stinson
Inhibition of human alkaline phosphatases by vanadate.
The Biochemical journal 1979;181(1):247-50.
1979: LORNE SEARGEANT; R A Stinson
Phosphoester specificity of purified human liver alkaline phosphatase.
Canadian journal of biochemistry 1979;57(7):2000-7.
1979: LORNE SEARGEANT; R A Stinson
Affinity elution from a phosphonic acid-Sepharose derivative in the purification of human liver alkaline phosphatase.
Journal of chromatography 1979;173(1):101-8.
1976: J M Trépanier; LORNE SEARGEANT; R A Stinson
Affinity purification and some molecular properties of human liver alkaline phosphatase.
The Biochemical journal 1976;155(3):653-60.