Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Journal: Genetics in medicine open
Year: June 20, 2024
Pediatrician
5
No OPD information available
Acanthosis Nigricans
Achondroplasia
Acromicric Dysplasia
Asphyxiating Thoracic Dystrophy
Brachydactyly Mononen Type
Chondrodystrophy
Achard Syndrome
Aplasia Cutis Congenita
Arachnodactyly
Arthrogryposis Multiplex Congenita
Clouston Syndrome
Congenital Contractures
Andreas Zankl is a male medical professional who helps patients with various conditions like Acanthosis Nigricans, Achondroplasia, and Arthrogryposis Multiplex Congenita. He has special skills in treating these conditions.
Andreas Zankl communicates with patients in a caring and understanding way, which makes them trust him. He listens to their concerns and explains things clearly.
To stay updated with the latest medical knowledge, Andreas Zankl reads research papers and attends conferences. This helps him provide the best care for his patients.
Andreas Zankl works well with his colleagues and other medical professionals. He values teamwork and collaboration to ensure the best outcomes for patients.
His work has positively impacted many patients' lives. For example, his research on SLC13A1 loss-of-function variants has improved understanding of skeletal phenotypes and helped in treating conditions like short stature and scoliosis.
One of his notable publications is about impaired sulfate transport and skeletal phenotypes, which was published in Genetics in Medicine Open in June 2024.
He was also involved in a clinical trial studying the efficacy and safety of Palovarotene in subjects with Multiple Osteochondromas, although the trial was terminated.
Overall, Andreas Zankl is a dedicated medical professional who uses his expertise and compassion to make a difference in his patients' lives.
Journal: Genetics in medicine open
Year: June 20, 2024
Enrollment Status: Terminated
Published: August 01, 2022
Intervention Type: Other, Drug
Study Drug:
Study Phase: Phase 2
Dr. Zankl is the best Pediatrician in Darlinghurst! He always makes me feel better when I'm sick.
I trust Dr. Zankl with my children's health. He is kind and knowledgeable.
Dr. Zankl is so friendly and caring. He explains things in a way that is easy to understand.
My kids love going to see Dr. Zankl. He makes them feel comfortable and safe.
Dr. Zankl is a wonderful Pediatrician. He always takes the time to listen to our concerns.
I highly recommend Dr. Zankl to all parents in Darlinghurst. He is truly dedicated to his patients.
Dr. Zankl has been taking care of my family for years. We are grateful for his expertise and compassion.
Dr. Zankl is a blessing to our community. He goes above and beyond for his young patients.