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Publications by Tony Rupar

Transcobalamin II Deficiency in Four Cases With Novel Mutations

Turkish Journal of Haematology

English

Related publications

Neurological Involvement in Hereditary Transcobalamin II Deficiency.

Journal of Neurology, Neurosurgery and Psychiatry

English

Four Novel Mutations in the Lactase Gene (LCT) Underlying Congenital Lactase Deficiency (CLD)

BMC Gastroenterology

Gastroenterology

English

Transcobalamin (TC) Deficiency and Newborn Screening

Journal of Inherited Metabolic Disease

English

Four Cases of Autosomal Dominant Hypocalcaemia With Hypercalciuria Including Two With Novel Mutations in the Calcium-Sensing Receptor Gene

Annals of Clinical Biochemistry

Clinical Biochemistry

English

Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

Pediatric Rheumatology

English

Two Novel Large ANKH Deletion Mutations in Sporadic Cases With Craniometaphyseal Dysplasia

Clinical Genetics

English

Analysis of KERA in Four Families With Cornea Plana Identifies Two Novel Mutations

Acta Ophthalmologica

English

Three Novel F8 Mutations in Sporadic Haemophilia a Cases

Multidisciplinary

English

Characterization of the Human Transcobalamin II Promoter

Journal of Biological Chemistry

Molecular Biology

English