Refine your search results with filters

Specialty
Additional Specialty
Gender
Years of Experience
Level of Expertise
Find a second opinion
Find now
 
 
 
 
Learn about our expert tiers
Learn more
Learn about our doctor expertise tiers.
If you have a rare or serious condition, you may want to seek advice from the best doctor you can find.
In most cases, seeking advice from top-tier doctors may not be necessary.
Elite
  • Global leaders in their field
  • Publish in medical journals frequently
  • Speak at conferences
  • Participate in clinical trials
  • Likely to work with cutting edge treatments
  • Likely to hold leadership positions in their organization
Distinguished
  • Leaders in their field
  • Strong research portfolio
  • Likely to work with cutting edge treatments
  • Likely to be a leader in their field regionally
Advanced
  • Likely to be excellent at diagnosing and treating conditions
  • Treat many patients and have extensive experience in their field
  • Less likely to publish, speak at conferences, or participate in clinical trials
Experienced
  • Primarily treat patients
  • May be specialists or primary care physicians
  • Have great experience in diagnosing and treating conditions
  • Less likely to set themselves apart from peers by publishing, speaking at conferences, or participating in clinical trials
  • Majority of doctors fall within this rating
Location:
Enter a Location
Radius:
Global
1976 doctors found
Sort By
Elite

Kagoshima University Graduate School Of Medical And Dental Sciences

Kagoshima, JP 89085

Takeyori Saheki practices in Kagoshima, Japan. Dr. Saheki is rated as an Elite doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Pyruvate Dehydrogenase Deficiency, Bile Duct Obstruction, and Low Potassium Level.

Elite

Niigata University

Department Of Pediatrics, Miyukikai Hospital
 
Kaminoyama, JP 

Kiyoshi Hayasaka practices in Kaminoyama, Japan. Dr. Hayasaka is rated as an Elite doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Citrullinemia, Congenital Central Hypoventilation Syndrome, Central Sleep Apnea, and Spasmus Nutans.

Find a second opinion
Learn about our expert tiers
Elite

Shinshu University School Of Medicine

Matsumoto, JP 

Masahide Yazaki practices in Matsumoto, Japan. Dr. Yazaki is rated as an Elite doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 8 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Primary Amyloidosis, Familial Mediterranean Fever, and Peritonitis.

Elite

Jinan University

Guangzhou, CN 51063

Yuan-zong Song practices in Guangzhou, China. Dr. Song is rated as an Elite doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Cholestasis, Bile Duct Obstruction, and Jaundice.

Distinguished

Jinan University

The First Affiliated Hospital, Jinan University
 
Guangzhou, CN 

Zhan-hui Zhang practices in Guangzhou, China. Dr. Zhang is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Cholestasis, Bile Duct Obstruction, and Jaundice.

Distinguished

Tokushima Bunri University

Tokushima, JP 77085

Keiko Kobayashi practices in Tokushima, Japan. Dr. Kobayashi is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Citrullinemia, Gangrene, Bile Duct Obstruction, and Cholestasis.

Distinguished

University Children's Hospital Zurich

Division Of Metabolism And Children's Research Center
 
Zurich, ZH, CH 8032

Johannes Haberle practices in Zurich, Switzerland. Dr. Haberle is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are N-Acetylglutamate Synthase Deficiency, Inborn Amino Acid Metabolism Disorder, Carbamoyl Phosphate Synthetase 1 Deficiency, and Argininosuccinic Aciduria.

Distinguished

Jinan University

Guangzhou, CN 51063

Wei-xia Lin practices in Guangzhou, China. Dr. Lin is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 3 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Jaundice, Transient Familial Hyperbilirubinemia, and Bile Duct Obstruction.

Distinguished
Pediatrics
Neurology
Medical Genetics

Childrens National Medical Center

Children's National Medical Center
 
Washington, DC 20010

Andrea Gropman is a Pediatrics specialist and a Neurologist in Washington, Washington, D.c.. Dr. Gropman is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. She is also highly rated in 38 other conditions, according to our data. Her top areas of expertise are Klinefelter Syndrome, Ornithine Transcarbamylase Deficiency, Hypogonadism, and Intersex. She is licensed to treat patients in District of Columbia. Dr. Gropman is currently accepting new patients.

Distinguished

Quanzhou Maternity And Children's Hospital

Quanzhou Maternity And Children's Hospital, 700 Fengze Street
 
Quanzhou, CN 36200

Yiming Lin practices in Quanzhou, China. Dr. Lin is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Primary Carnitine Deficiency, Citrullinemia, Inborn Amino Acid Metabolism Disorder, and Argininosuccinic Aciduria.

Distinguished

Kumamoto University

Kumamoto, JP 

Jun Kido practices in Kumamoto, Japan. Dr. Kido is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, Arginase Deficiency, and Argininosuccinic Aciduria.

Distinguished

Yamagata University

Yamagata, JP 

Chikahiko Numakura practices in Yamagata, Japan. Dr. Numakura is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 7 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Cytochrome P450 Oxidoreductase Deficiency, Enlarged Liver, and Acanthosis Nigricans.

Distinguished

Shinshu University School Of Medicine

Matsumoto, JP 39086

Shu-ichi Ikeda practices in Matsumoto, Japan. Dr. Ikeda is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 38 other conditions, according to our data. Their top areas of expertise are Primary Amyloidosis, Familial Transthyretin Amyloidosis, Citrullinemia, and Spinocerebellar Ataxia Type 31.

Distinguished

Hyogo College Of Medicine

Nishinomiya-hama, JP 66385

Yoshiyuki Okano practices in Nishinomiya-hama, Japan. Dr. Okano is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Citrullinemia, Phenylketonuria, Dihydropteridine Reductase Deficiency, and Primary Carnitine Deficiency.

Distinguished
Pediatrics
Medical Genetics

Icahn School Of Medicine At Mount Sinai

1428 Madison Ave
 
New York, NY 10029

George Diaz is a Pediatrics specialist and a Medical Genetics doctor in New York, New York. Dr. Diaz has been practicing medicine for over 27 years and is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 17 other conditions, according to our data. His top areas of expertise are Inborn Amino Acid Metabolism Disorder, Argininosuccinic Aciduria, Ornithine Transcarbamylase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is board certified in Pediatric Medicine and licensed to treat patients in New York. Dr. Diaz is currently accepting new patients.

Distinguished

Tohoku University

Sendai, JP 

Atsuo Kikuchi practices in Sendai, Japan. Dr. Kikuchi is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 11 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Spasmus Nutans, Epilepsy in Children, and West Syndrome.

Distinguished
Medical Genetics
Pediatrics

Rady Children's Institute For Genomic Medicine

3030 Childrens Way
 
San Diego, CA 92123

David Dimmock is a Medical Genetics specialist and a Pediatrics doctor in San Diego, California. Dr. Dimmock is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Citrullinemia, Increased Head Circumference, Mitochondrial Neurogastrointestinal Encephalopathy Disease, and Hypotonia. He is licensed to treat patients in California.

Distinguished

Sendai City Hospital

Sendai, JP 98285

Toshihiro Ohura practices in Sendai, Japan. Dr. Ohura is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 3 other conditions, according to our data. Their top areas of expertise are Citrullinemia, Dihydropteridine Reductase Deficiency, Phenylketonuria, and Inborn Amino Acid Metabolism Disorder.

Distinguished

Tohoku University

Graduate School Of Medicine, Tohoku University
 
Sendai, JP 

Shigeo Kure practices in Sendai, Japan. Dr. Kure is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. He is also highly rated in 38 other conditions, according to our data. His top areas of expertise are Galactokinase Deficiency, Galactose Epimerase Deficiency, Classic Galactosemia, and Galactosemia.

Distinguished

Jinan University

Guangzhou, CN 51063

Feng-ping Chen practices in Guangzhou, China. Dr. Chen is rated as a Distinguished doctor by MediFind in the treatment of Citrullinemia. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Citrullinemia, Jaundice, Cholestasis, and Bile Duct Obstruction.

Showing 1-20 of 1976

What is the definition of Citrullinemia?

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Some affected individuals develop serious liver problems. The health problems associated with type I citrullinemia are life-threatening in many cases. Less commonly, a milder form of type I citrullinemia can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, blind spots (scotomas), problems with balance and muscle coordination (ataxia), and lethargy. Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder.

Type II citrullinemia chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. Affected individuals often have specific food preferences, preferring protein-rich and fatty foods and avoiding carbohydrate-rich foods. The signs and symptoms of this disorder typically appear during adulthood (adult-onset) and can be triggered by certain medications, infections, surgery, and alcohol intake. These signs and symptoms can be life-threatening in people with adult-onset type II citrullinemia.

Adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. In many cases, the signs and symptoms of NICCD go away within a year. In rare cases, affected individuals develop other signs and symptoms in early childhood after seeming to recover from NICCD, including delayed growth, extreme tiredness (fatigue), specific food preferences (mentioned above), and abnormal amounts of fats (lipids) in the blood (dyslipidemia). This condition is known as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD). Years or even decades later, some people with NICCD or FTTDCD develop the features of adult-onset type II citrullinemia.

Behind the List

MediFind is the industry authority on identifying the leading medical experts and latest research in order to help patients facing complex health challenges, including , make better health decisions. Leveraging our expertise in natural language processing and machine learning across thousands of diseases, we uncover physicians who are leading authorities on . MediFind identifies these experts using proprietary world-class models that assess over 2.5 million global doctors based on a range of variables, including research leadership, patient volume, peer standing, and connectedness to other experts. Learn more about our methodology by exploring how MediFind works.