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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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521 doctors found
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Elite

Institute Of Neuroscience

Pisa, IT 56128

Laura Baroncelli practices in Pisa, Italy. Dr. Baroncelli is rated as an Elite doctor by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are X-Linked Creatine Deficiency, Amblyopia, Down Syndrome, and Seizures.

Elite

VU University Medical Center

Amsterdam, NH, NL 

Jiddeke Van De Kamp practices in Amsterdam, Netherlands. Dr. Van De Kamp is rated as an Elite doctor by MediFind in the treatment of X-Linked Creatine Deficiency. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are X-Linked Creatine Deficiency, Corneal Dystrophy and Perceptive Deafness, Epicanthal Folds, and Hearing Loss.

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Distinguished

VU University Medical Center

Amsterdam, NH, NL 

Gajja Salomons practices in Amsterdam, Netherlands. Dr. Salomons is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. They are also highly rated in 22 other conditions, according to our data. Their top areas of expertise are Guanidinoacetate Methyltransferase Deficiency, L-2-Hydroxyglutaric Aciduria, X-Linked Creatine Deficiency, and Succinic Semialdehyde Dehydrogenase Deficiency.

Distinguished

IRCCS Stella Maris Foundation

Department Of Clinical And Experimental Medicine
 
Pisa, IT 

Giovanni Cioni practices in Pisa, Italy. Dr. Cioni is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are X-Linked Creatine Deficiency, Hemiplegia, Alternating Hemiplegia of Childhood, and Cerebral Palsy.

Distinguished

University Of Florence

Florence, IT 50135

Tommaso Pizzorusso practices in Florence, Italy. Dr. Pizzorusso is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, Rett Syndrome, and Spasmus Nutans.

Distinguished
Medical Genetics
Pediatrics

Alliance For Childhood Diseases

295 S Chipeta Way
 
Salt Lake City, UT 84108

Nicola Longo is a Medical Genetics specialist and a Pediatrics doctor in Salt Lake City, Utah. Dr. Longo has been practicing medicine for over 39 years and is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 60 other conditions, according to our data. His top areas of expertise are Dihydropteridine Reductase Deficiency, Phenylketonuria, Primary Carnitine Deficiency, and Gaucher Disease Type 3. He is board certified in Pediatric Medicine and Medical Genetics And Genomics and licensed to treat patients in Nevada and Utah. Dr. Longo is currently accepting new patients.

Distinguished

Institute Of Neuroscience

Pisa, IT 56124

Elena Putignano practices in Pisa, Italy. Dr. Putignano is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, Spasmus Nutans, and Rett Syndrome.

Distinguished

University Of Toronto

Toronto, ON, CA 

Andreas Schulze practices in Toronto, Canada. Dr. Schulze is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Guanidinoacetate Methyltransferase Deficiency, X-Linked Creatine Deficiency, Inborn Amino Acid Metabolism Disorder, and Arginase Deficiency.

Distinguished

University Of British Columbia

Vancouver, BC, CA 

Clara Van Karnebeek practices in Vancouver, Canada. Dr. Van Karnebeek is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine 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.

Distinguished

IRCCS Stella Maris Foundation

Pisa, IT 56128

Maria Alessandri practices in Pisa, Italy. Dr. Alessandri is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are X-Linked Creatine Deficiency, Inborn Amino Acid Metabolism Disorder, Seizures, and Malignant Teratoma of the Mediastinum.

Distinguished

Hospital Clínic

Barcelona, CT, ES 

Angela Arias practices in Barcelona, Spain. Dr. Arias is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are X-Linked Creatine Deficiency, Wolman Disease, Pyruvate Decarboxylase Deficiency, and Cholesteryl Ester Storage Disease.

Distinguished

Hospital Clínic

Biomedical Research Institute
 
Barcelona, CT, ES 08036

Antonia Ribes practices in Barcelona, Spain. Dr. Ribes is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Lactic Acidosis Congenital Infantile, and X-Linked Creatine Deficiency.

Distinguished

Hospital Sant Joan De Déu

Barcelona, CT, ES 08950

Rafael Artuch practices in Barcelona, Spain. Dr. Artuch is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 30 other conditions, according to our data. His top areas of expertise are Dopa-Responsive Dystonia, Hartnup Disease, PMM2-Congenital Disorder of Glycosylation, and X-Linked Creatine Deficiency.

Distinguished

Jichi Medical University

Tochigi, JP 

Hitoshi Osaka practices in Tochigi, Japan. Dr. Osaka is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 46 other conditions, according to our data. His top areas of expertise are Leigh Syndrome, Pelizaeus-Merzbacher Disease, CACH Syndrome, and MELAS Syndrome.

Distinguished

VU University Medical Center

Amsterdam, NH, NL 

Cornelis Jakobs practices in Amsterdam, Netherlands. Dr. Jakobs is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Pyridoxine Deficiency, L-2-Hydroxyglutaric Aciduria, Succinic Semialdehyde Dehydrogenase Deficiency, and X-Linked Creatine Deficiency.

Distinguished

VU University Medical Center

Amsterdam, NH, NL 

Ofir Betsalel practices in Amsterdam, Netherlands. Dr. Betsalel is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are X-Linked Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency, and Mosaicism.

Distinguished

Hôpital Necker Enfants Malades

Paris, FR 

Vassili Valayannopoulos practices in Paris, France. Dr. Valayannopoulos is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are Lipidosis with Triglycerid Storage Disease, Cholesteryl Ester Storage Disease, Wolman Disease, and Inborn Amino Acid Metabolism Disorder.

Distinguished
Medical Genetics
Pediatrics

National Institutes Of Health

10 Center Dr
 
Bethesda, MD 20892

Forbes Porter is a Medical Genetics specialist and a Pediatrics doctor in Bethesda, Maryland. Dr. Porter is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 30 other conditions, according to our data. His top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Niemann-Pick Disease. He is licensed to treat patients in Maryland.

Distinguished
Medical Genetics
Pediatrics

National Institutes Of Health

10 Center Dr
 
Bethesda, MD 20892

Simona Bianconi is a Medical Genetics specialist and a Pediatrics doctor in Bethesda, Maryland. Dr. Bianconi is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, X-Linked Creatine Deficiency, and Niemann-Pick Disease. She is licensed to treat patients in New York.

Distinguished

University Of Genoa

Genoa, IT 16132

Maurizio Balestrino practices in Genoa, Italy. Dr. Balestrino is rated as a Distinguished doctor by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are X-Linked Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, and Stroke.

Showing 1-20 of 521

What is the definition of X-Linked Creatine Deficiency?

X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.

A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).

Behind the X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine 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.