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Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assays

Neurology, 2012-02, Vol.78 (9), p.665-671

2012

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Monogenic traits are not simple: lessons from phenylketonuria

Trends in Genetics, 1999-07, Vol.15 (7), p.267-272

1999

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A molecular template approach to integration of polyaniline into textiles

Synthetic metals, 2009-06, Vol.159 (12), p.1135-1140

2009

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Evidence for Magmatic-Hydrothermal Fluids and Ore-Forming Processes in Epithermal and Porphyry Deposits of the Baguio District, Philippines

Economic geology and the bulletin of the Society of Economic Geologists, 2011-12, Vol.106 (8), p.1399-1424

2011

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Maleic acid is a biomarker for Maleylacetoacetate isomerase deficiency; implications for newborn screening of Tyrosinemia type 1

Journal of inherited metabolic disease, 2023-11, Vol.46 (6), p.1104-1113

2023

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Igneous Geochemistry of Mineralized Rocks of the Baguio District, Philippines: Implications for Tectonic Evolution and the Genesis of Porphyry-Style Mineralization

Economic geology and the bulletin of the Society of Economic Geologists, 2011-12, Vol.106 (8), p.1317-1333

2011

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Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

American journal of human genetics, 1997-12, Vol.61 (6), p.1309-1317

1997

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Porphyry and Epithermal Deposits and 40Ar/39Ar Geochronology of the Baguio District, Philippines

Economic geology and the bulletin of the Society of Economic Geologists, 2011-12, Vol.106 (8), p.1335-1363

2011

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Geochemistry of Tertiary Igneous Rocks of Northern Luzon, Philippines: Evidence for a Back-Arc Setting for Alkalic Porphyry Copper-Gold Deposits and a Case for Slab Roll-Back?

Economic geology and the bulletin of the Society of Economic Geologists, 2011-12, Vol.106 (8), p.1257-1277

2011

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Investigating the widely held belief that men and women with learning disabilities receive poor quality healthcare when admitted to hospital: a single-site study of 30-day readmission rates

Journal of intellectual disability research, 2015-09, Vol.59 (9), p.835-844

2015

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Intracranial calcification after cord blood neonatal transplantation for krabbe disease

Neuropediatrics, 2009-08, Vol.40 (4), p.189-191

2009

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Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy

Neuropediatrics, 2007-02, Vol.38 (1), p.38-41

2007

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In vitro Self-Assembly of Human Pericyte-Supported Endothelial Microvessels in Three-Dimensional Coculture: A Simple Model for Interrogating Endothelial-Pericyte Interactions

Journal of vascular research, 2013-01, Vol.50 (4), p.324-331

2013

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Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy

Journal of inherited metabolic disease, 2004-01, Vol.27 (6), p.778-780

2004

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.208-212

1999

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Simple CVD Routes Towards Infiltration of Mesoporous TiO2

Chemical vapor deposition, 2005-05, Vol.11 (5), p.254-260

2005

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Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13c]phenylalanine oxidation rates in vivo : A pilot study

Pediatric research, 1997-10, Vol.42 (4), p.430-435

1997

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Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI

Neuropediatrics, 2008-06, Vol.39 (3), p.179-183

2008

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Measurement of Sialic Acid in Serum and Urine: Clinical Applications and Limitations

Annals of Clinical Biochemistry, 1992-11, Vol.29 (6), p.625-637

1992

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PAHdb: A locus-specific knowledgebase

Human mutation, 2000-01, Vol.15 (1), p.99-104

2000

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Increases in plasma lysosomal enzymes in type 1 (insulin-dependent) diabetes mellitus : relationship to diabetic complications and glycaemic control

Diabetologia, 1992-10, Vol.35 (10), p.991-995

1992

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Freeze-stable sialidase activity in human leucocytes : substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localization

Biochemical journal, 1994-08, Vol.301 (3), p.777-784

1994

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Decreased Sialidase Activity in Mononuclear Leucocytes of Type 1 Diabetic Subjects: Relationship to Diabetic Complications and Glycaemic Control

Diabetic medicine, 1995-08, Vol.12 (8), p.670-673

1995

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In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

Human mutation, 1998, Vol.11 (1), p.4-17

1998

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Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

Molecular genetics and metabolism, 2000-02, Vol.69 (2), p.101-110

2000

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Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assays

Monogenic traits are not simple: lessons from phenylketonuria

A molecular template approach to integration of polyaniline into textiles

Evidence for Magmatic-Hydrothermal Fluids and Ore-Forming Processes in Epithermal and Porphyry Deposits of the Baguio District, Philippines

Maleic acid is a biomarker for Maleylacetoacetate isomerase deficiency; implications for newborn screening of Tyrosinemia type 1

Igneous Geochemistry of Mineralized Rocks of the Baguio District, Philippines: Implications for Tectonic Evolution and the Genesis of Porphyry-Style Mineralization

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

Porphyry and Epithermal Deposits and 40Ar/39Ar Geochronology of the Baguio District, Philippines

Geochemistry of Tertiary Igneous Rocks of Northern Luzon, Philippines: Evidence for a Back-Arc Setting for Alkalic Porphyry Copper-Gold Deposits and a Case for Slab Roll-Back?

Investigating the widely held belief that men and women with learning disabilities receive poor quality healthcare when admitted to hospital: a single-site study of 30-day readmission rates

Intracranial calcification after cord blood neonatal transplantation for krabbe disease

Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy

In vitro Self-Assembly of Human Pericyte-Supported Endothelial Microvessels in Three-Dimensional Coculture: A Simple Model for Interrogating Endothelial-Pericyte Interactions

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Simple CVD Routes Towards Infiltration of Mesoporous TiO2

Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13c]phenylalanine oxidation rates in vivo : A pilot study

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI

Measurement of Sialic Acid in Serum and Urine: Clinical Applications and Limitations

PAHdb: A locus-specific knowledgebase

Increases in plasma lysosomal enzymes in type 1 (insulin-dependent) diabetes mellitus : relationship to diabetic complications and glycaemic control

Freeze-stable sialidase activity in human leucocytes : substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localization

Decreased Sialidase Activity in Mononuclear Leucocytes of Type 1 Diabetic Subjects: Relationship to Diabetic Complications and Glycaemic Control

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

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