Karissa Ludwig

Brisbane, QLD 4101, Australia

Last Updated: 09/26/2026

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Found 15 publications

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.

Journal: International journal of molecular sciences

Published: February 08, 2026

Metaphyseal band fractures in pediatric patients treated with denosumab.

Metaphyseal band fractures in pediatric patients treated with denosumab.

Journal: European journal of endocrinology

Published: September 29, 2025

Functional Change in Three Adolescents With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Series.

Functional Change in Three Adolescents With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Series.

Journal: Journal of paediatrics and child health

Published: August 10, 2025

Denosumab as a treatment for pediatric hypercalcemia-a multicenter experience.

Denosumab as a treatment for pediatric hypercalcemia-a multicenter experience.

Journal: JBMR plus

Published: May 28, 2025

RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets.

RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 15, 2024

Hypercalcaemia and the ketogenic diet.

Hypercalcaemia and the ketogenic diet.

Journal: Journal of paediatrics and child health

Published: August 15, 2024

Enzyme replacement therapy for hypophosphatasia-The current paradigm.

Enzyme replacement therapy for hypophosphatasia-The current paradigm.

Journal: Clinical endocrinology

Published: December 22, 2023

X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells.

X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells.

Journal: Bone

Published: May 03, 2023

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: February 27, 2023

Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples.

Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 28, 2023

Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.

Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.

Journal: Bone

Published: June 06, 2022

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

Journal: Bone

Published: February 04, 2022

Showing 1-12 of 15

Last Updated: 09/26/2026