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Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

Pediatric research, 2000, Vol.47 (1), p.43-45

2000

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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, 2002-01, Vol.75 (1), p.70-78

2002

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A rare case of Niemann–Pick disease type C without neurological involvement in a 66-year-old patient

Molecular genetics and metabolism reports, 2015-06, Vol.3 (C), p.18-20

2015

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A simple screening test for fatty acid oxidation defects using whole‐blood palmitate oxidation

Journal of inherited metabolic disease, 1999-08, Vol.22 (6), p.740-746

1999

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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, 1995-03, Vol.4 (3), p.493-495

1995

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Primary oxaluria type 2 ( l-glyceric aciduria): A rare cause of nephrolithiasis in children

The Journal of pediatrics, 1991-06, Vol.118 (6), p.912-914

1991

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Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

Clinical genetics, 1997-03, Vol.51 (3), p.174-178

1997

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Increased plasma pyridoxal‐5′‐phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

Journal of inherited metabolic disease, 1990-11, Vol.13 (6), p.891-896

1990

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Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family

The Journal of pediatrics, 1992-10, Vol.121 (4), p.553-557

1992

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Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario

Canadian Medical Association journal (CMAJ), 1991-07, Vol.145 (2), p.123

1991

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Inhibition of human alkaline phosphatases by vanadate

Biochemical journal, 1979-07, Vol.181 (1), p.247-250

1979

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Familial neuroblastoma: report of a kindred with later age at diagnosis

Journal of pediatric hematology/oncology, 1998-09, Vol.20 (5), p.489-493

1998

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Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy

Journal of inherited metabolic disease, 1992-11, Vol.15 (6), p.933-934

1992

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Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

The Journal of pediatrics, 1991, Vol.118 (1), p.52-58

1991

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Carrier detection in glutaric aciduria type I using interleukin‐2‐dependent cultured lymphocytes

Journal of inherited metabolic disease, 1992-09, Vol.15 (5), p.733-737

1992

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Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship

The Journal of pediatrics, 1989-07, Vol.115 (1), p.81-88

1989

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Newborn screening for galactosemia: a new method used in Manitoba

Pediatrics (Evanston), 1989-08, Vol.84 (2), p.331

1989

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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, 1991-10, Vol.41 (1), p.89-95

1991

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Affinity purification and some molecular properties of human liver alkaline phosphatase

Biochemical journal, 1976-06, Vol.155 (3), p.653-660

1976

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Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

American journal of medical genetics, 1993-03, Vol.45 (5), p.572-576

1993

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A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

Genomics (San Diego, Calif.), 1993-07, Vol.17 (1), p.215-217

1993

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Comparative studies of pure alkaline phosphatases from five human tissues

Clinica chimica acta, 1981-03, Vol.110 (2), p.261-272

1981

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Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening

American journal of human genetics, 1990-02, Vol.46 (2), p.280-285

1990

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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, 1984-03, Vol.310 (11), p.686

1984

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Infantile hypophosphatasia—Linkage with the RH locus

Genomics (San Diego, Calif.), 1987-11, Vol.1 (3), p.280-282

1987

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Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

Outcome of the First 3-Years of a DNA-Based Neonatal Screening Program for Glutaric Acidemia Type 1 in Manitoba and Northwestern Ontario, Canada

A rare case of Niemann–Pick disease type C without neurological involvement in a 66-year-old patient

A simple screening test for fatty acid oxidation defects using whole‐blood palmitate oxidation

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

Primary oxaluria type 2 ( l-glyceric aciduria): A rare cause of nephrolithiasis in children

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

Increased plasma pyridoxal‐5′‐phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family

Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario

Inhibition of human alkaline phosphatases by vanadate

Familial neuroblastoma: report of a kindred with later age at diagnosis

Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

Carrier detection in glutaric aciduria type I using interleukin‐2‐dependent cultured lymphocytes

Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship

Newborn screening for galactosemia: a new method used in Manitoba

Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

Affinity purification and some molecular properties of human liver alkaline phosphatase

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

Comparative studies of pure alkaline phosphatases from five human tissues

Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

Infantile hypophosphatasia—Linkage with the RH locus

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