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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
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334 doctors found
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Distinguished

Sun Yat Sen University Cancer Center

Guangzhou, CN 51000

Jin Xiang practices in Guangzhou, China. Dr. Xiang is rated as a Distinguished doctor by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are PEPCK 1 Deficiency, Renal Oncocytoma, Lung Metastases, and Liver Cancer.

Distinguished

Chongqing Medical University

Key Laboratory Of Molecular Biology For Infectious Diseases, Department Of Infectious Diseases, The Second Affiliated Hospital, Chongqing Medical University
 
Chongqing, CN 

Ni Tang practices in Chongqing, China. Dr. Tang is rated as a Distinguished doctor by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are PEPCK 1 Deficiency, Hepatitis, Liver Cancer, and Hepatitis B.

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Distinguished

Chongqing Medical University

Chongqing, CN 

Jie Xia practices in Chongqing, China. Dr. Xia is rated as a Distinguished doctor by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 3 other conditions, according to our data. Their top areas of expertise are PEPCK 1 Deficiency, Hepatitis B, Hepatitis, and Liver Cancer.

Distinguished

Birmingham Children's Hospital

Birmingham, ENG, GB 

Saikat Santra practices in Birmingham, United Kingdom. Dr. Santra is rated as a Distinguished doctor by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 12 other conditions, according to our data. Their top areas of expertise are PEPCK 1 Deficiency, Wolman Disease, Tyrosinemia Type 3, and Cholesteryl Ester Storage Disease.

Distinguished
General Practice

American Health Network Of Indiana, LLC

2330 S Dixon Rd
 
Kokomo, IN 46902

Ronald Maus is a General Practice doctor in Kokomo, Indiana. Dr. Maus is rated as a Distinguished doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Trimethylaminuria, Pyruvate Kinase Deficiency, PEPCK 1 Deficiency, and Pyruvate Dehydrogenase Deficiency. He is licensed to treat patients in Indiana. Dr. Maus is currently accepting new patients.

Distinguished
Nephrology
Internal Medicine

Mayo Clinic

200 1st St Sw
 
Rochester, MN 55905

Elizabeth Lorenz is a Nephrologist and an Internal Medicine doctor in Rochester, Minnesota. Dr. Lorenz has been practicing medicine for over 18 years and is rated as a Distinguished doctor by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 24 other conditions, according to our data. Her top areas of expertise are Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Primary Hyperoxaluria Type 1, and Primary Hyperoxaluria Type 3. She is board certified in Nephrology and licensed to treat patients in Minnesota. Dr. Lorenz is currently accepting new patients.

Advanced
Nephrology
Internal Medicine

Capital Area Surgeons PLLC

12221 N Mopac Expy
 
Austin, TX 78758

Satyarth Kul is a Nephrologist and an Internal Medicine doctor in Austin, Texas. Dr. Kul has been practicing medicine for over 22 years and is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 38 other conditions, according to our data. His top areas of expertise are PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Primary Hyperoxaluria Type 1, and Primary Hyperoxaluria Type 3. He is board certified in Nephrology and licensed to treat patients in Michigan, Texas, and Arkansas. Dr. Kul is currently accepting new patients.

Advanced

Chongqing Medical University

Chongqing, CN 

Ailong Huang practices in Chongqing, China. Dr. Huang is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Hepatitis, PEPCK 1 Deficiency, Hepatitis B, and Liver Cancer.

Advanced

University Of British Columbia

Vancouver, BC, CA 

Clara Van Karnebeek practices in Vancouver, Canada. Dr. Van Karnebeek is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Pyridoxine Deficiency, X-Linked Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency, and Holocarboxylase Synthetase Deficiency.

Advanced

The Hospital For Sick Children

Toronto, ON, CA 

Jessie Cameron practices in Toronto, Canada. Dr. Cameron is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are PEPCK 1 Deficiency, Pyruvate Dehydrogenase Deficiency, Lactic Acidosis, and Pyruvate Decarboxylase Deficiency.

Advanced

Radboud University Medical Center

Nijmegen, GE, NL 

Richard Rodenburg practices in Nijmegen, Netherlands. Dr. Rodenburg is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 26 other conditions, according to our data. His top areas of expertise are Mitochondrial Complex V Deficiency, Cytochrome C Oxidase Deficiency, Mitochondrial Complex 1 Deficiency, and Coenzyme Q Cytochrome C Reductase Deficiency.

Advanced
Pediatrics
Neonatology

University Of Colorado School Of Medicine

13123 E 16th Ave
 
Aurora, CO 80045

Paul Rozance is a Pediatrics specialist and a Neonatologist in Aurora, Colorado. Dr. Rozance is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Placental Insufficiency, Intrauterine Growth Restriction, Newborn Low Blood Sugar, and Low Blood Sugar. He is licensed to treat patients in Colorado. Dr. Rozance is currently accepting new patients.

Advanced
Pediatrics
Neonatology

University Of Colorado School Of Medicine

12605 E 16th Ave
 
Aurora, CO 80045

William Hay is a Pediatrics specialist and a Neonatologist in Aurora, Colorado. Dr. Hay is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Placental Insufficiency, Intrauterine Growth Restriction, Newborn Low Blood Sugar, and Premature Infant. He is licensed to treat patients in Colorado. Dr. Hay is currently accepting new patients.

Advanced

Chinese Academy Of Agricultural Sciences

Chongqing, CN 

Qingzhu Gao practices in Chongqing, China. Dr. Gao is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are PEPCK 1 Deficiency, Multiple Carboxylase Deficiency, Liver Cancer, and Hepatitis.

Advanced
General Practice

Chickasaw Nation Division Of Health Chickasaw Nation Medical Center

1438 Hardcastle Blvd
 
Purcell, OK 73080

Brian Joachims is a General Practice doctor in Purcell, Oklahoma. Dr. Joachims has been practicing medicine for over 28 years and is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Primary Hyperoxaluria, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type 3, and Primary Hyperoxaluria Type 2. He is board certified in Family Medicine and licensed to treat patients in Oklahoma.

Advanced
Internal Medicine

Steward Medical Group Inc

70 E St
 
Methuen, MA 01844

Joseph August is an Internal Medicine doctor in Methuen, Massachusetts. Dr. August has been practicing medicine for over 29 years and is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Pyruvate Decarboxylase Deficiency, PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, and Pyruvate Kinase Deficiency. He is board certified in Internal Medicine and licensed to treat patients in Massachusetts. Dr. August is currently accepting new patients.

Advanced
Oncology
Hematology
Palliative Medicine

Florida Cancer Specialists And Research Institute, LLC

600 N Cattlemen Rd
 
Sarasota, FL 34232

Fadi Kayali is an Oncologist and a Hematologist in Sarasota, Florida. Dr. Kayali has been practicing medicine for over 24 years and is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 63 other conditions, according to our data. His top areas of expertise are Lung Cancer, Pleuropulmonary Blastoma, Myelodysplastic Syndrome, and Cholangiocarcinoma. He is board certified in Hematology/oncology and licensed to treat patients in Florida and Michigan. Dr. Kayali is currently accepting new patients.

Advanced
Urology

Baystate Wing Hospital Corporation

40 Wright St
 
Palmer, MA 01069

Kirby Juengst is an Urologist in Palmer, Massachusetts. Dr. Juengst is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 43 other conditions, according to our data. His top areas of expertise are Malakoplakia, Bilateral Hydronephrosis, Obstructive Uropathy, and UPJ Obstruction. He is licensed to treat patients in Massachusetts.

Advanced
Internal Medicine

Nyu Langone Hospitals

148 E 38th St
 
New York, NY 10016

Neal Lewin is an Internal Medicine doctor in New York, New York. Dr. Lewin has been practicing medicine for over 47 years and is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Pyruvate Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. He is board certified in Internal Medicine and Emergency Medicine and licensed to treat patients in New York.

Advanced
Nephrology
Internal Medicine

Mayo Clinic

200 1st St Sw
 
Rochester, MN 55905

John Lieske is a Nephrologist and an Internal Medicine doctor in Rochester, Minnesota. Dr. Lieske has been practicing medicine for over 35 years and is rated as an Advanced doctor by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 40 other conditions, according to our data. His top areas of expertise are Kidney Stones, Primary Hyperoxaluria, Dent Disease, and Primary Hyperoxaluria Type 1. He is board certified in Nephrology and licensed to treat patients in Minnesota. Dr. Lieske is currently accepting new patients.

Showing 1-20 of 334

What is the definition of PEPCK 1 Deficiency?

PEPCK1 deficiency is a rare inborn error of metabolism disorder,  characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from  severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include  persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian. PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). 

Behind the PEPCK 1 Deficiency 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 PEPCK 1 Deficiency, 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 PEPCK 1 Deficiency. 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.