Search Results - "Nyuzuki Hiromi"

Peripheral precocious puberty in a girl with an intracranial hCG-producing tumor: case report and literature review by Shibata, Nao, Nyuzuki, Hiromi, Sasaki, Sunao, Ogawa, Yohei, Okada, Masayasu, Nagasaki, Keisuke

“…Human chorionic gonadotropin (hCG)-producing tumors cause peripheral precocious puberty (PP) in boys, but generally not in girls. Homology between LH and hCG…”
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Biallelic GALM pathogenic variants cause a novel type of galactosemia by Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

“…Purpose Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant by Nyuzuki, Hiromi, Ozawa, Junichi, Nagasaki, Keisuke, Nishio, Yosuke, Ogi, Tomoo, Tohyama, Jun, Ikeuchi, Takeshi

“…Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal…”
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PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis by Miura, Aya, Funayama, Kazuhisa, Nyuzuki, Hiromi, Takahashi, Naoya, Yamamoto, Takuma, Koyama, Akihide, Ikeuchi, Takeshi, Takatsuka, Hisakazu, Nishio, Hajime

“…•Forensic autopsy revealed pulmonary embolism and a genetic background of congenital protein S (PS) deficiency.•A genetic conference including forensic…”
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A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns by Onuki, Takanori, Hiroshima, Shota, Sawano, Kentaro, Shibata, Nao, Ogawa, Yohei, Nagasaki, Keisuke, Nyuzuki, Hiromi

“…Background: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers…”
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First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child by Nyuzuki, Hiromi, Yamazaki, Taro, Saito, Megumi, Ohtake, Akira

“…Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese…”
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A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy by Borna, Nurun N, Kishita, Yoshihito, Ishikawa, Kaori, Nakada, Kazuto, Hayashi, Jun-Ichi, Tokuzawa, Yoshimi, Kohda, Masakazu, Nyuzuki, Hiromi, Yamashita-Sugahara, Yzumi, Nasu, Takashi, Takeda, Atsuhito, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi

“…Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. TAZ…”
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Regulation of Serum Sodium Levels during Chemotherapy Using Selective Arginine Vasopressin V2-Receptor Antagonist Tolvaptan in a Four-Year-Old Girl with a Suprasellar Germ Cell Tumor by Hiroshima, Shota, Nyuzuki, Hiromi, Sasaki, Sunao, Ogawa, Yohei, Nagasaki, Keisuke

“…There are limited reports on the use of tolvaptan for syndrome of inappropriate antidiuretic hormone secretion (SIADH) in children. Managing serum sodium…”
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Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome by Inoue, Takanobu, Nakamura, Akie, Matsubara, Keiko, Nyuzuki, Hiromi, Nagasaki, Keisuke, Oka, Akira, Fukami, Maki, Kagami, Masayo

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Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia by Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency by Shima, Rohi, Sawano, Kentaro, Shibata, Nao, Nyuzuki, Hiromi, Sasaki, Sunao, Sato, Hidetoshi, Ogawa, Yohei, Abe, Yuki, Nagasaki, Keisuke, Saitoh, Akihiko

“…Newborn screening (NBS) can detect 21-hydroxylase deficiency (21-OHD), allowing for early treatment initiation. However, many patients present with adrenal…”
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PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule by Nyuzuki, Hiromi, Kogai, Takahiko, Hishinuma, Akira, Ogawa, Yohei, Saitoh, Akihiko, Nagasaki, Keisuke

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Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study by Nagasaki, Keisuke, Sato, Hidetoshi, Sasaki, Sunao, Nyuzuki, Hiromi, Shibata, Nao, Sawano, Kentaro, Hiroshima, Shota, Asami, Tadashi

“…Although newborn screening (NBS) for congenital hypothyroidism (CH) in Japan started more than 40 years ago, the prevalence of CH remains unclear. Prevalence…”
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Biallelic GALM pathogenicvariants cause a novel type of galactosemia by Wada Yoichi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto, Osamu, Takezawa Yusuke, Iwasawa Shinya, Niihori Tetsuya, Nyuzuki Hiromi, Nakajima Yoko, Ogawa, Erika, Ishige Mika, Hirai Hiroki, Sasai Hideo, Fujiki Ryoji, Shirota Matsuyuki, Funayama Ryo, Yamamoto Masayuki, Ito Tetsuya, Ohara Osamu, Nakayama Keiko, Aoki Yoko, Koshiba Seizo, Fukao Toshiyuki, Kure Shigeo

“…PurposeGalactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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Gastric metastasis from small bowel adenocarcinoma in a Lynch syndrome patient by Matsumoto, Akio, Shimada, Yoshifumi, Kondo, Shuhei, Mizuno, Ken-ichi, Nakano, Mae, Yamai, Daisuke, Nakano, Masato, Nyuzuki, Hiromi, Umezu, Hajime, Wakai, Toshifumi

“…Gastric cancer is a Lynch syndrome (LS)-associated tumor, with the cumulative lifetime risk in LS patients estimated to be 5.8–13%. Hence, surveillance for…”
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Peripheral precocious puberty in a girl with an intracranial hCG-producing tumor : case report and literature review by Nao Shibata, Hiromi Nyuzuki, Sunao Sasaki, Yohei Ogawa, Masayasu Okada, Keisuke Nagasaki

“…[Abstract.] Human chorionic gonadotropin (hCG)-producing tumors cause peripheral precocious puberty (PP) in boys, but generally not in girls. Homology between…”
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Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency by Rohi Shima, Kentaro Sawano, Nao Shibata, Hiromi Nyuzuki, Sunao Sasaki, Hidetoshi Sato, Yohei Ogawa, Yuki Abe, Keisuke Nagasaki, Akihiko Saitoh

“…[Abstract. ] Newborn screening (NBS) can detect 21-hydroxylase deficiency (21-OHD), allowing for early treatment initiation. However, many patients present…”
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Autonomously functioning thyroid nodule in a four-year-old boy with Sotos syndrome by Nyuzuki, Hiromi, Nagasaki, Keisuke, Matsuyama, Hiroshi, Tomita, Masahiko, Imai, Chihaya, Ogawa, Yohei, Kikuchi, Toru, Uchiyama, Makoto

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Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish by Nyuzuki, Hiromi, Ito, Shinji, Nagasaki, Keisuke, Nitta, Yohei, Matsui, Noriko, Saitoh, Akihiko, Matsui, Hideaki

“…ATP13A2 is the autosomal recessive causative gene for juvenile-onset Parkinson’s disease (PARK9, Parkinson’s disease 9), also known as Kufor-Rakeb syndrome…”
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GPATCH4 contributes to nucleolus morphology and its dysfunction impairs cell viability by Kodera, Kazuki, Hishida, Ryuichi, Sakai, Akiko, Nyuzuki, Hiromi, Matsui, Noriko, Yamanaka, Tomoyuki, Saitoh, Akihiko, Matsui, Hideaki

“…The nucleolus serves a multifaceted role encompassing not only rRNA transcription and ribosome synthesis, but also the intricate orchestration of cell cycle…”
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