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Publications by Patrick A. Lundquist

Comprehensive Mutation Screening in 55 Probands With Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis

Journal of the American Society of Nephrology : JASN
MedicineNephrology
2007English

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Primary Hyperoxaluria Type 1: A Cluster of New Mutations in Exon 7 of the AGXT Gene.

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Primary Hyperoxaluria Type 3

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Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

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Progressive Polyradiculoneuropathy Due to Intraneural Oxalate Deposition in Type 1 Primary Hyperoxaluria

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Calcified Nodules on Fingers in Primary Hyperoxaluria Type 2

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A Mutation Creating an Out-Of-Frame Alternative Translation Initiation Site in theGRHPR5′UTR Causing Primary Hyperoxaluria Type II

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Identification of Mutations Associated With Peroxisome-To-Mitochondrion Mistargeting of Alanine/Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1

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Molecular Insights Into Primary Hyperoxaluria Type I Pathogenesis

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