Review: Utility of mass spectrometry in rare disease research and diagnosis.
Journal: NPJ genomic medicine
Year: December 18, 2024
Medical Geneticist
5
No OPD information available
Angelman Syndrome
Leigh Syndrome
Meningococcemia
Orotic Aciduria Type 1
Primary Hyperoxaluria Type 3
Smith-Lemli-Opitz Syndrome
Absence Seizure
Addison's Disease
Adrenoleukodystrophy (ALD)
Congenital Adrenal Hyperplasia (CAH)
Congenital Hypothyroidism
Generalized Tonic-Clonic Seizure
Hearing Loss
High Potassium Level
Hypothyroidism
Hypotonia
Immune Defect due to Absence of Thymus
Infantile Axonal Neuropathy
Infantile Neutropenia
Intersex
Kidney Stones
Low Sodium Level
Methylmalonic Acidemia
Micrognathia
Mitochondrial Complex V Deficiency
Molybdenum Cofactor Deficiency (MoCD)
Movement Disorders
Neonatal Hypothyroidism
Prader-Willi Syndrome
Primary Hyperoxaluria
Riboflavin Transporter Deficiency Neuronopathy
Seizures
Short Bowel Syndrome
Sialic Acid Storage Disease
Sialuria
Sitosterolemia
Small Bowel Bacterial Overgrowth
Splenomegaly
Sulfite Oxidase Deficiency
Urea Cycle Disorders (UCD)
Xanthoma
James J. Pitt is a male medical professional who helps people with many different health conditions. Some of the things he can help with are Angelman Syndrome, kidney stones, seizures, hearing loss, and more. He knows a lot about rare diseases and uses special skills to treat patients.
James J. Pitt talks to patients in a friendly way and listens to their concerns. Patients trust him because he explains things clearly and makes them feel comfortable. He stays up to date with new medical information and research to give the best care possible.
James J. Pitt works well with other medical professionals and shares knowledge with them. He is respected by his colleagues for his expertise and dedication to helping patients. His work has had a positive impact on many people's lives by improving their health and well-being.
One of James J. Pitt's important publications is about using mass spectrometry to help diagnose rare diseases. This shows his commitment to finding new ways to help patients with complex conditions.
In summary, James J. Pitt is a caring and knowledgeable medical professional who works hard to improve the lives of his patients. He uses his expertise and keeps learning to provide the best care possible. Patients trust him, and his work has made a positive impact on many people.
Journal: NPJ genomic medicine
Year: December 18, 2024
James J. Pitt is an amazing Medical Geneticist in Melbourne. He was so kind and knowledgeable during my consultation. I highly recommend him!
I had a great experience with James J. Pitt as my Medical Geneticist. He explained everything clearly and made me feel at ease. Definitely a top-notch doctor!
James J. Pitt is a fantastic Medical Geneticist. He was very thorough in his evaluation and took the time to answer all my questions. I feel lucky to have found him!
I can't say enough good things about James J. Pitt. He is a skilled Medical Geneticist who truly cares about his patients. I felt well taken care of under his expertise.
James J. Pitt is an exceptional Medical Geneticist in Melbourne. He has a great bedside manner and made me feel comfortable throughout my appointment. Highly recommend him!