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Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia

Journal of dental research, 2011-04, Vol.90 (4), p.470-476

2011

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Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.355-364

2011

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Cementum and Dentin in Hypophosphatasia

Journal of dental research, 2005-11, Vol.84 (11), p.1021-1025

2005

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Osteoprotegerin Deficiency and Juvenile Paget's Disease

The New England journal of medicine, 2002-07, Vol.347 (3), p.175-184

2002

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Mutations in TNFRSF11A , affecting the signal peptide of RANK, cause familial expansile osteolysis

Nature genetics, 2000-01, Vol.24 (1), p.45-48

2000

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Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

Endocrine reviews, 1994-08, Vol.15 (4), p.439-461

Whyte, M. P.

1994

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Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia

Journal of bone and mineral research, 1999-12, Vol.14 (12), p.2015-2026

1999

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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

The Journal of clinical investigation, 1995-12, Vol.96 (6), p.2683-2692

1995

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Nature genetics, 2004-04, Vol.36 (4), p.377-381

2004

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Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia

Journal of dental research, 2015-05, Vol.94 (5), p.706-714

2015

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Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

Molecular genetics and metabolism, 2001-12, Vol.74 (4), p.458-475

2001

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Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite- like mineral crystals

The American journal of pathology, 1997-12, Vol.151 (6), p.1555-1561

1997

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Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13

American journal of human genetics, 1999, Vol.64 (1), p.189-195

1999

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X-linked hypophosphatemia : A search for gender, race, anticipation, or parent of origin effects on disease expression in children

The journal of clinical endocrinology and metabolism, 1996-11, Vol.81 (11), p.4075-4080

1996

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Carbonic anhydrase II deficiency

Clinical orthopaedics and related research, 1993-09, Vol.294 (294), p.52-63

Whyte, M P

1993

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First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

European journal of human genetics : EJHG, 1998-03, Vol.6 (2), p.151-157

1998

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Mutational analysis of PHEX gene in X-linked hypophosphatemia

The journal of clinical endocrinology and metabolism, 1998-10, Vol.83 (10), p.3615-3623

1998

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A Missense Mutation in the Human Liver/Bone/Kidney Alkaline Phosphatase Gene Causing a Lethal Form of Hypophosphatasia

Proceedings of the National Academy of Sciences - PNAS, 1988-10, Vol.85 (20), p.7666-7669

1988

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Severe hypophosphatemia in children with kwashiorkor is associated with increased mortality

The Journal of pediatrics, 1998-12, Vol.133 (6), p.789-791

1998

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Expansile Skeletal Hyperphosphatasia Is Caused by a 15‐Base Pair Tandem Duplication in TNFRSF11A Encoding RANK and Is Allelic to Familial Expansile Osteolysis

Journal of bone and mineral research, 2002-01, Vol.17 (1), p.26-29

2002

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Different Missense Mutations at the Tissue-Nonspecific Alkaline Phosphatase Gene Locus in Autosomal Recessively Inherited Forms of Mild and Severe Hypophosphatasia

Proceedings of the National Academy of Sciences - PNAS, 1992-10, Vol.89 (20), p.9924-9928

1992

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Paternally Inherited Inactivating Mutations of the GNAS1 Gene in Progressive Osseous Heteroplasia

The New England journal of medicine, 2002-01, Vol.346 (2), p.99-106

2002

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Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis

Clinical endocrinology (Oxford), 1996-12, Vol.45 (6), p.675-680

1996

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Milk processing and quality management

Tamime, A. Y

1, 2009

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Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

The Journal of clinical investigation, 1995-04, Vol.95 (4), p.1440-1445

1995

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Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia

Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study

Cementum and Dentin in Hypophosphatasia

Osteoprotegerin Deficiency and Juvenile Paget's Disease

Mutations in TNFRSF11A , affecting the signal peptide of RANK, cause familial expansile osteolysis

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite- like mineral crystals

Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13

X-linked hypophosphatemia : A search for gender, race, anticipation, or parent of origin effects on disease expression in children

Carbonic anhydrase II deficiency

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

Mutational analysis of PHEX gene in X-linked hypophosphatemia

A Missense Mutation in the Human Liver/Bone/Kidney Alkaline Phosphatase Gene Causing a Lethal Form of Hypophosphatasia

Severe hypophosphatemia in children with kwashiorkor is associated with increased mortality

Expansile Skeletal Hyperphosphatasia Is Caused by a 15‐Base Pair Tandem Duplication in TNFRSF11A Encoding RANK and Is Allelic to Familial Expansile Osteolysis

Different Missense Mutations at the Tissue-Nonspecific Alkaline Phosphatase Gene Locus in Autosomal Recessively Inherited Forms of Mild and Severe Hypophosphatasia

Paternally Inherited Inactivating Mutations of the GNAS1 Gene in Progressive Osseous Heteroplasia

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis

Milk processing and quality management

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

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