Inborn Errors

Inborn Errors top experts.

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Inborn Errors: Top KOLs in the world

World Rank

Name

Topic

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Marinus ***** (Reveal full name)
Laboratory Genetic Metabolic Diseases, Academic Medical Cent

Also Ranks for:
Inborn Errors
Fatty Acids
Phytanic Acid
Xanthine Dehydrogenase
prenatal diagnosis

Inborn Errors

Reveal score

Jean ******* ******** (Reveal full name)
University of Paris, Imagine Institute, Paris 75015, France,

Also Ranks for:
Inborn Errors
Mycobacterial Disease
Mendelian Susceptibility
Primary Immunodeficiencies
herpes simplex

Inborn Errors

Reveal score

Capucine ****** (Reveal full name)
Laboratory of Lymphocyte Activation and Susceptibility to EB

Also Ranks for:
Inborn Errors
Primary Immunodeficiencies
Gene Therapy
Cell Transplantation
ectodermal dysplasia

Inborn Errors

Reveal score

Stuart * ****** (Reveal full name)
Garvan Institute of Medical Research, Darlinghurst, NSW, Aus

Also Ranks for:
Inborn Errors
Tfh Cells
Follicular Helper
Primary Immunodeficiencies
cell differentiation

Inborn Errors

Reveal score

Peter ******** ******* (Reveal full name)
UCL GOS Institute of Child Health, University College, Londo

Also Ranks for:
Inborn Errors
Congenital Disorders
Bile Acid
Mass Spectrometry
pnpo deficiency

Inborn Errors

Reveal score

Tomohiro ***** (Reveal full name)
Department of Pediatrics, Tokyo Medical and Dental Universit

Also Ranks for:
Inborn Errors
Stem Cell
Ataxia Telangiectasia
Japanese Patients
xiap deficiency

Inborn Errors

Reveal score

Laurent **** (Reveal full name)
Howard Hughes Medical Institute, New York, NY, USA | Laborat

Also Ranks for:
Inborn Errors
Infectious Diseases
Mycobacterial Disease
Herpes Simplex
buruli ulcer

Inborn Errors

Reveal score

Georg ********* ********* (Reveal full name)
Department of General Pediatrics, University Children's Hosp

Also Ranks for:
Inborn Errors
Glutaric Aciduria Type
Nitric Oxide
Vitamin B12 Deficiency
newborn screening

Inborn Errors

Reveal score

Alberto ********* ******* (Reveal full name)
Division of Inherited Metabolic Diseases, Department of Diag

Also Ranks for:
Newborn Screening
Inborn Errors
Urea Cycle Disorders
Fabry Disease
lysosomal origin

Inborn Errors

Reveal score

#10

Carlo ************ (Reveal full name)
Metabolic Diseases Unit, Bambino Gesù Children's Hospital IR

Also Ranks for:
Vici Syndrome
Inborn Errors
Newborn Screening
Methylmalonic Aciduria
urea cycle disorders

Inborn Errors

Reveal score

#11

Ertan ********* (Reveal full name)
Department of General Pediatrics, Neonatology and Pediatric

Also Ranks for:
Inborn Errors
Cysteinyl Leukotrienes
Congenital Hyperinsulinism
Newborn Screening
tuberculosis patients

Inborn Errors

Reveal score

#12

Troy ****** ********* (Reveal full name)
Experimental Immunology, Allen Institute, Seattle, WA, USA |

Also Ranks for:
Inborn Errors
Ipex Syndrome
Nonmalignant Diseases
Cell Transplantation
immune dysregulation

Inborn Errors

Reveal score

#13

Daniel * ****** (Reveal full name)
Laboratoire de Biochimie B, Hôpital Necker Enfants Malades,

Also Ranks for:
Inborn Errors
Liver Transplantation
Amino Acids
Amniotic Fluid
prenatal diagnosis

Inborn Errors

Reveal score

#14

Bridget * ******* (Reveal full name)
NSW Newborn Screening Programme, The Children’s Hospital at

Also Ranks for:
Inborn Errors
Anorexia Nervosa
New South Wales
Cystic Fibrosis

Inborn Errors

Reveal score

#15

Jean‐Marie ********* (Reveal full name)
Groupe de Recherche Clinique Neurométabolique, Université Pi

Also Ranks for:
Prenatal Diagnosis
Clinical Approach
Phytanic Acid
Inborn Errors
peroxisomal disorders

Inborn Errors

Reveal score

#16

Martin ******* (Reveal full name)
Division of Paediatric Neurology, University Children’s Hosp

Also Ranks for:
Inborn Errors
Southwest Germany
Visual Functions
Newborn Screening
glutaric aciduria type

Inborn Errors

Reveal score

#17

James ****** ******* (Reveal full name)
A Bagley Wood Road, Kennington, Oxford, OX1 5LY UK | Mitocho

Also Ranks for:
Disease Type
European Study
Mitochondrial Dna
Inborn Errors
glycogen storage

Inborn Errors

Reveal score

#18

Stephen ***** ******* (Reveal full name)
Department of Pediatrics, University of Colorado School of M

Also Ranks for:
Cerebral Cortex
Inborn Errors
Gcdh Mice
Glutaric Acid
coa dehydrogenase

Inborn Errors

Reveal score

#19

Nenad ***** (Reveal full name)
Division of Metabolism, University Children's Hospital Züric

Also Ranks for:
Gtp Cyclohydrolase
Phenylalanine Hydroxylase
Nitric Oxide
Inborn Errors
tetrahydrobiopterin deficiency

Inborn Errors

Reveal score

#20

Johannes ******** (Reveal full name)
Institute of Human Genetics, Medical University of Innsbruck

Also Ranks for:
Northern Ireland
Glutaric Aciduria Type
Phenylalanine Hydroxylase
Danlos Syndrome
inborn errors

Inborn Errors

Reveal score

#21

Piero ** ******* (Reveal full name)
Norwegian National Unit for Newborn Screening, Division of P

Also Ranks for:
Dried Blood Spots
Coa Dehydrogenase
Newborn Screening
Tandem Mass Spectrometry
inborn errors

Inborn Errors

Reveal score

#22

Ron ***** ****** (Reveal full name)
Translational Metabolic Laboratory, Department Laboratory Me

Also Ranks for:
Congenital Disorders
Cutis Laxa
Spina Bifida
Cerebrotendinous Xanthomatosis
inborn errors

Inborn Errors

Reveal score

#23

John * ****** (Reveal full name)
Developmental Biology and Medicine, School of Medical Scienc

Also Ranks for:
Newborn Screening
Propionic Acidaemia
Liver Transplantation
Propionate Metabolism
inborn errors

Inborn Errors

Reveal score

#24

Aziz * ******** (Reveal full name)
Laboratory of Clinical Immunology, Inflammation, and Allergy

Also Ranks for:
Immunological Societies
Primary Immunodeficiency
Mycobacterial Disease
International Union
inborn errors

Inborn Errors

Reveal score

#25

Waleed ******* (Reveal full name)
Kuwait University Kuwait City, Kuwait. | Department of Pedia

Also Ranks for:
Primary Immunodeficiency
Skin Manifestations
Dock8 Deficiency
International Union
inborn errors

Inborn Errors

Reveal score

#26

José **** ***** ****** (Reveal full name)
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina,

Also Ranks for:
International Union
Primary Immunodeficiency
Immunological Societies
Latin America
inborn errors

Inborn Errors

Reveal score

#27

Jerry ******* (Reveal full name)
University of Pittsburgh, Pittsburgh, PA, USA | Division Med

Also Ranks for:
Newborn Screening
Chain Acyl
Liver Transplantation
Coa Dehydrogenase
inborn errors

Inborn Errors

Reveal score

#28

Ronald * * ******* (Reveal full name)
Laboratory Genetic Metabolic Diseases, Department of Clinica

Also Ranks for:
Zellweger Syndrome
Chondrodysplasia Punctata
Refsum Disease
Peroxisomal Disorders
phytanic acid

Inborn Errors

Reveal score

#29

CORNELIS ****** (Reveal full name)
Department of Clinical Chemistry, VU Medical Center, Amsterd

Also Ranks for:
Mass Spectrometry
Ssadh Deficiency
Phytanic Acid
Prenatal Diagnosis
amniotic fluid

Inborn Errors

Reveal score

#30

William * ***** (Reveal full name)
Department of Pediatrics, School of Medicine, University of

Also Ranks for:
Uric Acid
Prenatal Diagnosis
Amniotic Fluid
Nyhan Syndrome

Inborn Errors

Reveal score

#31

Stephen * ******* (Reveal full name)
Laboratory of Clinical Immunology and Microbiology, National

Also Ranks for:
Gata2 Deficiency
Nadph Oxidase
United States
Patients Cgd
chronic granulomatous disease

Inborn Errors

Reveal score

#32

Matthias * *********** (Reveal full name)
Division of Metabolism and Children's Research Center, Unive

Also Ranks for:
Urea Cycle Disorders
Methylmalonic Acid
Vitamin B12
Newborn Screening

Inborn Errors

Reveal score

#33

Jennifer * **** (Reveal full name)
UCSF | Department of Pediatrics, University of California Sa

Also Ranks for:
Gene Therapy
Lymphoproliferative Syndrome
International Union
Severe Combined Immunodeficiency
newborn screening

Inborn Errors

Reveal score

#34

Alain ******* (Reveal full name)
Service d’immuno-hématologie pédiatrique, Assistance Publiqu

Also Ranks for:
Bone Marrow
Combined Immunodeficiency
Stem Cell
Chronic Granulomatous Disease
gene therapy

Inborn Errors

Reveal score

#35

Harvey * **** (Reveal full name)
Harvard Medical School, Boston, MA, United States | Division

Also Ranks for:
United States
Phenylalanine Hydroxylase
Amino Acid
Newborn Screening
maternal phenylketonuria

Inborn Errors

Reveal score

#36

Luigi ******* *********** (Reveal full name)
NIAID/NIH | Division of Immunology, Children’s Hospital and

Also Ranks for:
Primary Immunodeficiencies
Combined Immunodeficiency
Aldrich Syndrome
Gene Therapy
stem cell

Inborn Errors

Reveal score

#37

Hans ****** **** (Reveal full name)
Division of Immunology, Department of Pediatrics, University

Also Ranks for:
Aldrich Syndrome
Immune Dysregulation
Cd40 Ligand
Primary Immunodeficiency
intravenous immunoglobulin

Inborn Errors

Reveal score

#38

Frits * ******* (Reveal full name)
Department of Pediatrics, Emma Children's Hospital, Amsterda

Also Ranks for:
Mucopolysaccharidosis Type
Mps Iii
Newborn Screening
Sanfilippo Syndrome
fabry disease

Inborn Errors

Reveal score

#39

Charlotte ****************** (Reveal full name)
Department of Medicine, Icahn School of Medicine at Mount Si

Also Ranks for:
Usidnet Registry
Iga Deficiency
Immune Complexes
Intravenous Immunoglobulin
common variable

Inborn Errors

Reveal score

#40

AMOS ******* (Reveal full name)
Ruth Children Hospital, Rappaport Faculty of Medicine, Techn

Also Ranks for:
International Union
Nude Mice
Hair Growth
Severe Combined Immunodeficiency
leukocyte adhesion

Inborn Errors

Reveal score

#41

Kathleen * ******** (Reveal full name)
Children | Division of Allergy and Immunology, Children's Ho

Also Ranks for:
Usidnet Registry
Systemic Lupus Erythematosus
Chronic Granulomatous Disease
Common Variable Immunodeficiency
digeorge syndrome

Inborn Errors

Reveal score

#42

Christoph * ***** (Reveal full name)
Department of Pediatrics, Dr. von Hauner Children’s Hospital

Also Ranks for:
Bone Marrow
Neutrophil Granulocytes
Magnetic Resonance
Gene Therapy
congenital neutropenia

Inborn Errors

Reveal score

#43

Udo ****** (Reveal full name)
Medical Faculty of the Heinrich-Heine University Düsseldorf,

Also Ranks for:
Glycogen Storage
Amino Acids
Newborn Screening
Maple Syrup
urine disease

Inborn Errors

Reveal score

#44

Talal * ******* (Reveal full name)
Boston Children's Hospital - Harvard Medical School | Divisi

Also Ranks for:
Dock8 Deficiency
Protein Kinase
Treg Cells
Immune Dysregulation
food allergy

Inborn Errors

Reveal score

#45

Dietrich ****** (Reveal full name)
Mayo Clinic College of Medicine, Rochester, MN, USA | Mayo C

Also Ranks for:
Dried Blood Spots
Krabbe Disease
Propionic Acidemia
Newborn Screening
tandem mass spectrometry

Inborn Errors

Reveal score

#46

Vassili *************** (Reveal full name)
Necker-Enfants Malades University Hospital and IMAGINE Insti

Also Ranks for:
Transaldolase Deficiency
Carglumic Acid
Congenital Hyperinsulinism
Hip Dysplasia
sebelipase alfa

Inborn Errors

Reveal score

#47

Eric ************ (Reveal full name)
Service d'Immunopathologie Clinique, Hôpital Saint-Louis, AP

Also Ranks for:
Common Variable Immunodeficiency
Human Herpesvirus
Hiv Infection
Plasma Exchange
castleman disease

Inborn Errors

Reveal score

#48

Stefan ******* (Reveal full name)
Division of Child Neurology and Metabolic Medicine, Center f

Also Ranks for:
Coa Dehydrogenase
Glutaric Aciduria Type
Newborn Screening
Methylmalonic Acid
urea cycle disorders

Inborn Errors

Reveal score

#49

David * ********** (Reveal full name)
Department of Pediatrics, Duke University School of Medicine

Also Ranks for:
Pompe Disease
North Carolina
Digital Microfluidics
Newborn Screening
mass spectrometry

Inborn Errors

Reveal score

#50

Charles * *** (Reveal full name)
Investigations were performed at the Institute of Metabolic

Also Ranks for:
Mass Spectrometry
Coa Dehydrogenase
Chain Acyl
Phytanic Acid
choroid plexus

Inborn Errors

Reveal score