Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Journal: BMJ open
Year: January 24, 2025
Geneticist
5
No OPD information available
Lipogranulomatosis
Mucopolysaccharidoses (MPS)
Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)
Fabry Disease
Farber Lipogranulomatosis
Fetal Edema
Gaucher Disease
Gaucher Disease Type 1
Hydrops Fetalis
Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)
Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome)
Multiple Sulfatase Deficiency
Alpha Thalassemia
Batten Disease
Bile Duct Obstruction
CACH Syndrome
Cardiomyopathy
Cholestasis
CLN1 Disease
CLN2 Disease
CLN3 Disease
CLN4 Disease
CLN5 Disease
Dentatorubral-Pallidoluysian Atrophy
Enlarged Liver
Gangliosidosis
GM1 Gangliosidosis
Hemoglobinopathy
Hemolytic Disease of the Newborn
Intrahepatic Cholestasis of Pregnancy
Krabbe Disease
Lafora Disease
Leukodystrophy
Maple Syrup Urine Disease
Metachromatic Leukodystrophy
Mucolipidosis Type 4
Myoclonic Epilepsy
Palatal Myoclonus
Phenylketonuria (PKU)
Pompe Disease
Primary Lateral Sclerosis
Sialic Acid Storage Disease
Sialuria
Thalassemia
Maria Fuller is a female medical professional who helps patients with various rare diseases such as Lipogranulomatosis, Fabry Disease, and Thalassemia. She specializes in conditions like Gaucher Disease, Batten Disease, and Maple Syrup Urine Disease.
Maria Fuller uses her special skills and treatments to care for patients with complex medical needs. She is known for her compassionate approach and ability to explain things in a way that patients can understand. Patients trust her because she listens carefully to their concerns and works with them to create personalized treatment plans.
To stay updated with the latest medical knowledge, Maria Fuller regularly attends conferences, reads medical journals, and collaborates with other experts in the field. This dedication to learning ensures that she can provide the best possible care for her patients.
In her work, Maria Fuller values collaboration with colleagues and other medical professionals. She believes in a team-based approach to healthcare, where different experts work together to provide comprehensive care for patients. This collaborative approach helps ensure that patients receive the most effective treatments and support.
Maria Fuller's work has had a positive impact on many patients' lives. Through her expertise and dedication, she has helped improve the health and well-being of individuals with rare and challenging medical conditions. Her research on cystic fibrosis, published in BMJ Open, has contributed valuable insights to the medical community and has the potential to benefit many patients in the future.
Overall, Maria Fuller is a skilled and caring medical professional who is dedicated to helping patients with rare diseases. Her commitment to ongoing learning, collaboration with colleagues, and positive impact on patients' lives make her a respected and trusted member of the medical community.
Journal: BMJ open
Year: January 24, 2025
Maria Fuller is an amazing Geneticist who truly cares about her patients. She explained everything in a way that was easy to understand. Highly recommend her!
Maria Fuller is a fantastic Geneticist. She was very thorough and made me feel comfortable throughout the whole process. I'm grateful for her expertise.
I had a great experience with Maria Fuller. She is a knowledgeable Geneticist who took the time to address all my concerns. I feel confident in her care.
Maria Fuller is a top-notch Geneticist. She is kind, patient, and extremely professional. I couldn't have asked for a better specialist to work with.
I highly recommend Maria Fuller as a Geneticist. She is not only skilled in her field but also has a warm and caring approach that puts you at ease.
Maria Fuller is an exceptional Geneticist. She provided me with clear explanations and personalized care. I am very satisfied with the service she provided.
Maria Fuller is a wonderful Geneticist. She is attentive, knowledgeable, and truly dedicated to helping her patients. I am grateful for her expertise.
I had a great experience with Maria Fuller as my Geneticist. She was thorough, compassionate, and made me feel comfortable throughout the consultation. Highly recommend her!
Maria Fuller is an excellent Geneticist who goes above and beyond for her patients. She is compassionate, knowledgeable, and truly cares about helping others.
I had a positive experience with Maria Fuller as my Geneticist. She was thorough, understanding, and provided me with valuable insights. I would recommend her without hesitation.