Kenji E. Orii

Kenji E. Orii

Second Department Of Internal Medicine, Shinshu University School Of Medicine, Matsumoto, Japan; And

Direct Impact

Concepts for which Kenji E Orii has direct influence:

hunter syndrome
mps iva
jilin province
newborn screening
enzyme replacement therapy
lipid metabolism
iodinated contrast agents

External impact

Concepts related to the work of other authors for which Kenji E Orii has influence:

newborn screening
hunter syndrome
allergic disorders
mps iva
enzyme replacement therapy
surgical history
fusion protein

Prominent publications by Kenji E. Orii

KOL-Index: 93 Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, which lack an enzyme corresponding to the specific type of MPS. Enzyme replacement therapy (ERT) has been the standard therapeutic option for some types of MPS because of the ability to start immediate treatment with feasibility and safety and to improve prognosis. There are several disadvantages for current ERT, such as ...
Known for
Current Mps | Bone Cartilage | Improve Therapeutic | Avascular
KOL-Index: 84 Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored ...
Known for
Diagnosis Mps
KOL-Index: 63 Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive. Phenotypes are classified as either attenuated or severe (based on absence or ...
Known for
Therapy Investigation | Mps Hunter | Limitations Central | Intrathecal Gene
KOL-Index: 51 Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler Syndrome) was endorsed by the U.S. Secretary of the Department of Health and Human Services for universal newborn screening (NBS) in February 2016. Its endorsement ...
Known for
Biomarkers Mps | Birth Newborn
KOL-Index: 49 We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses. In particular, since the only treatment for the cerebral form of ALD is hematopoietic stem cell transplantation at an early stage of onset, ...
Known for
Introduction Newborn | Disorders Japan | Ald Peroxisomal | Screening Adrenoleukodystrophy
KOL-Index: 40 Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation with GAGs, blood samples were collected from 46 MPS II patients, 34 MPS IVA patients, and 5 MPS IVB patients. We ...
Known for
Iva | Mono Sulfated | Mps Egf
KOL-Index: 40 INTRODUCTION: Morquio A syndrome is characterized by a unique skeletal dysplasia, leading to short neck and trunk, pectus carinatum, laxity of joints, kyphoscoliosis, and tracheal obstruction. Cervical spinal cord compression/inability, a restrictive and obstructive airway, and/or bone deformity and imbalance of growth, are life-threatening to Morquio A patients, leading to a high morbidity ...
Known for
Morquio Leading | Therapy Approved | Treated Hsct | Progressive Tracheal
KOL-Index: 36 The human succinyl-CoA: 3-ketoacid CoA transferase (SCOT) gene encodes the ketolytic enzyme that functions in the mitochondrial matrix. The activation of acetoacetate to acetoacetyl-CoA by SCOT is essential for the use of ketone bodies as an energy source. The ketolytic capacity of tissues is proportional to their level of SCOT activity. Normal hepatocytes, the site of ketone body synthesis, ...
Known for
Mitochondrial Matrix | Silencing Gene | Scot Promoter Activity | Chang
KOL-Index: 35 Acetoacetate (AcAc) and 3-hydroxybutyrate (3HB), the two main ketone bodies of humans, are important vectors of energy transport from the liver to extrahepatic tissues, especially during fasting, when glucose supply is low. Blood total ketone body (TKB) levels should be evaluated in the context of clinical history, such as fasting time and ketogenic stresses. Blood TKB should also be ...
Known for
T2-Deficient | 3-Hydroxybutyrate | Mitochondrial Hmg-Coa Synthase Mhs | Succinyl-Coa-3-Oxoacid Coa Transferase
KOL-Index: 35 Mucopolysaccharidoses (MPS) are caused by deficiency of one of a group of specific lysosomal enzymes, resulting in excessive accumulation of glycosaminoglycans (GAGs). We previously developed GAG assay methods using liquid chromatography tandem mass spectrometry (LC-MS/MS); however, it takes 4-5 min per sample for analysis. For the large numbers of samples in a screening program, a more ...
Known for
Newborn Mps | Gags | Chromatographic Separation | Liquid Chromatography Tandem Mass

Second Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan; and

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