Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Journal: European journal of human genetics : EJHG
Year: January 03, 2024
Medical Geneticist
5
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Lactic Acidosis
Sideroblastic Anemia
Early Infantile Epileptic Encephalopathy
Leigh Syndrome
Microphthalmia with Linear Skin Defects Syndrome
Mohr-Tranebjaerg Syndrome
Perrault Syndrome
Achalasia Microcephaly Syndrome
Anemia
Anophthalmia Plus Syndrome
Bone Dysplasia Corpus Callosum Agenesis
CACH Syndrome
Cardiomyopathy
Cataract
Cone-Rod Dystrophy
Congenital Fiber-Type Disproportion
Corpus Callosum Agenesis
Cortical Dysplasia
Cutis Laxa
Drug Induced Dyskinesia
Epilepsy
Exocrine Pancreatic Insufficiency
Focal Dystonia
Gerodermia Osteodysplastica
Hearing Loss
Hypotonia
Infant Respiratory Distress Syndrome
Intersex
Leukodystrophy
MELAS Syndrome
Microcephaly
Microcephaly Deafness Syndrome
Microphthalmia
Mitochondrial Complex 1 Deficiency
Myofibrillar Myopathy
Optic Nerve Atrophy
Pelizaeus-Merzbacher Disease
Periventricular Heterotopia
Premature Ovarian Failure
Retinopathy Pigmentary Mental Retardation
Smith-Lemli-Opitz Syndrome
Tubular Aggregate Myopathy
Turner Syndrome
Vici Syndrome
West Syndrome
X-Linked Myotubular Myopathy
Lisa G. Riley is a female healthcare provider who helps patients with various health conditions like lactic acidosis, anemia, epilepsy, and many more. She has special skills to diagnose and treat these complex medical issues. Patients trust her because she communicates clearly and listens to their concerns.
Lisa stays updated with the latest medical knowledge and research to provide the best care for her patients. She collaborates with other medical professionals to ensure comprehensive treatment plans. Her relationships with colleagues are strong, and they work together to improve patient outcomes.
Lisa's work has positively impacted many patients' lives by diagnosing rare conditions and providing effective treatments. Her notable publication on SLC5A6 neuropathy shows her commitment to advancing medical knowledge and improving patient care.
In summary, Lisa G. Riley is a dedicated healthcare provider who uses her expertise and compassion to help patients with complex health issues. Through her commitment to ongoing learning and collaboration with colleagues, she continues to make a difference in the lives of those she cares for.
Journal: European journal of human genetics : EJHG
Year: January 03, 2024
Lisa G. Riley is an amazing Medical Geneticist. She explained everything in a way that was easy to understand and made me feel comfortable throughout the process. Highly recommend!
I had a great experience with Lisa G. Riley. She is very knowledgeable and caring. I felt like I was in good hands the whole time. Thank you for your help!
Lisa G. Riley is a fantastic Medical Geneticist. She took the time to listen to my concerns and provided me with clear explanations. I left the appointment feeling reassured and informed.
I cannot recommend Lisa G. Riley enough. She is not only professional but also compassionate. Her expertise in medical genetics is truly impressive. Thank you for your excellent care!
Lisa G. Riley is a top-notch Medical Geneticist. She made me feel at ease and answered all my questions patiently. I am grateful for her expertise and support.
I had a wonderful experience with Lisa G. Riley. She is a skilled Medical Geneticist who genuinely cares about her patients. I felt well taken care of under her guidance.
Lisa G. Riley is an exceptional Medical Geneticist. She was thorough in her assessment and provided me with valuable insights. I left the appointment feeling empowered and informed.
I had a positive experience with Lisa G. Riley. She is a knowledgeable and compassionate Medical Geneticist who goes above and beyond for her patients. Highly recommend her services!