Search Results - "Shimozawa, Nobuyuki"

Positional determination of the carbon–carbon double bonds in unsaturated fatty acids mediated by solvent plasmatization using LC–MS by Takashima, Shigeo, Toyoshi, Kayoko, Yamamoto, Takuhei, Shimozawa, Nobuyuki

“…Fatty acids (FAs) are the central components of life: they constitute biological membranes in the form of lipid, act as signaling molecules, and are used as…”
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Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients by Fujiwara, Yuko, Hama, Kotaro, Shimozawa, Nobuyuki, Yokoyama, Kazuaki

“…Adrenoleukodystrophy (X-ALD) is an X-linked genetic disorder caused by mutation of the ATP-binding cassette subfamily D member 1 gene, which encodes the…”
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Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases by Shimozawa, Nobuyuki

“…Abstract Peroxisomal diseases are categorized into three large groups – peroxisome biogenesis disorders (PBD), single enzyme deficiencies (SED) and contiguous…”
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Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan by Takashima, Shigeo, Saitsu, Hirotomo, Shimozawa, Nobuyuki

“…The concept of peroxisomal diseases is expanding because of improvements in diagnostic technology based on advanced biochemical analysis and development of…”
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Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates by Kawai, Hiroki, Takashima, Shigeo, Ohba, Akiko, Toyoshi, Kayoko, Kubota, Kazuo, Ohnishi, Hidenori, Shimozawa, Nobuyuki

“…Bile acid intermediates, 3α,7α,12α-trihydroxycholestanoic acid (THCA) and 3α,7α-dihydroxycholestanoic acid (DHCA), are metabolized in peroxisomes. Some…”
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Hexacosenoyl-CoA is the most abundant very long-chain acyl-CoA in ATP binding cassette transporter D1-deficient cells[S] by Hama, Kotaro, Fujiwara, Yuko, Takashima, Shigeo, Hayashi, Yasuhiro, Yamashita, Atsushi, Shimozawa, Nobuyuki, Yokoyama, Kazuaki

“…X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by deleterious mutations in the ABCD1 gene. The ABCD1 protein transports very long-chain…”
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Analysis of five cases showing false-high Hemoglobin A1c due to reduced catalase activity by Hara, Kenji, Ujiie, Atsushi, Suzuki, Shiori, Okumura, Takenori, Kubo, Mio, Shinozaki, Hiroyuki, Yamauchi, Mototaka, Tsuchiya, Takafumi, Takebayashi, Kohzo, Shimozawa, Nobuyuki, Koga, Masafumi, Hashimoto, Koshi

“…We encountered five cases that exhibited false-high Hemoglobin A1c (HbA1c) levels when samples were examined using the enzyme-based NORUDIA N HbA1c kit. HbA1c…”
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Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms by Kubota, Kazuo, Kawai, Hiroki, Takashima, Shigeo, Shimohata, Takayoshi, Otsuki, Mika, Ohnishi, Hidenori, Shimozawa, Nobuyuki

“…Childhood cerebral adrenoleukodystrophy (CCALD) is the most common phenotype of adrenoleukodystrophy (ALD) and is characterized by the progression of…”
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POLR3A variants in striatal involvement without diffuse hypomyelination by Hiraide, Takuya, Kubota, Kazuo, Kono, Yu, Watanabe, Seiji, Matsubayashi, Tomoko, Nakashima, Mitsuko, Kaname, Tadashi, Fukao, Toshiyuki, Shimozawa, Nobuyuki, Ogata, Tsutomu, Saitsu, Hirotomo

“…Biallelic variants in POLR3A encoding the largest subunit of RNA polymerase III cause POLR3-related (or 4H) leukodystrophy characterized by neurologic…”
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A 29-year-old patient with adrenoleukodystrophy presenting with Addison’s disease by Tanaka, Hajime, Amano, Naoko, Tanaka, Kumiko, Katsuki, Takeshi, Adachi, Tomohide, Shimozawa, Nobuyuki, Kawai, Toshihide

“…Adrenoleukodystrophy (ALD) is an X-linked disorder caused by a hemizygous mutation of the ABCD1 gene. Patients with ALD show progressive central nervous system…”
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Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency by Morita, Atsushi, Enokizono, Takashi, Ohto, Tatsuyuki, Tanaka, Mai, Watanabe, Shiena, Takada, Yui, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Morita, Masashi, Takashima, Shigeo, Shimozawa, Nobuyuki, Takada, Hidetoshi

“…Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive,…”
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Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system by Sakurai, Ken, Ohashi, Toya, Shimozawa, Nobuyuki, Joo-Hyun, Seo, Okuyama, Torayuki, Ida, Hiroyuki

“…Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD)…”
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Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene by Matsui, Shuji, Funahashi, Masuko, Honda, Ayako, Shimozawa, Nobuyuki

“…Abstract We identified the first patient with infantile Refsum disease (IRD), a milder phenotype of peroxisome biogenesis disorder (PBD) caused by a mutated…”
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Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood by Ohba, Chihiro, Osaka, Hitoshi, Iai, Mizue, Yamashita, Sumimasa, Suzuki, Yume, Aida, Noriko, Shimozawa, Nobuyuki, Takamura, Ayumi, Doi, Hiroshi, Tomita-Katsumoto, Atsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Eto, Yoshikatsu, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo

“…Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with clinical and genetic heterogeneity. Although careful evaluation of…”
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Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease by Matsunami, Masatoshi, Shimozawa, Nobuyuki, Fukuda, Akinari, Kumagai, Tadayuki, Kubota, Masaya, Chong, Pin Fee, Kasahara, Mureo

“…Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction,…”
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Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival by Zaabi, Nuha Al, Kendi, Anoud, Al-Jasmi, Fatma, Takashima, Shigeo, Shimozawa, Nobuyuki, Al-Dirbashi, Osama Y.

“…Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease…”
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Profiling and Imaging of Phospholipids in Brains of Abcd1‐Deficient Mice by Hama, Kotaro, Fujiwara, Yuko, Morita, Masashi, Yamazaki, Fumiyoshi, Nakashima, Yuko, Takei, Shiro, Takashima, Shigeo, Setou, Mitsutoshi, Shimozawa, Nobuyuki, Imanaka, Tsuneo, Yokoyama, Kazuaki

“…ABCD1 is a gene responsible for X‐linked adrenoleukodystrophy (X‐ALD), and is critical for the transport of very long‐chain fatty acids (VLCFA) into…”
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Adrenoleukodystrophy by Shimozawa, Nobuyuki

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Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy by Morito, Katsuya, Shimizu, Ryota, Ali, Hanif, Shimada, Akina, Miyazaki, Tohru, Takahashi, Naoko, Rahman, M. Motiur, Tsuji, Kazuki, Shimozawa, Nobuyuki, Nakao, Michiyasu, Sano, Shigeki, Azuma, Momoyo, Nanjundan, Meera, Kogure, Kentaro, Tanaka, Tamotsu

“…X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder associated with peroxisomal dysfunction. Patients with this rare disease accumulate very long-chain…”
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A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder by Obara, Koji, Abe, Erika, Shimozawa, Nobuyuki, Toyoshima, Itaru

“…A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal…”
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