Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Ichimoto, Keiko; Fujisawa, Tomoo; Shimura, Masaru; Fushimi, Takuya; Tajika, Makiko; Matsunaga, Ayako; Ogawa-Tominaga, Minako; Akiyama, Nana; Naruke, Yuki; Horie, Hiroshi; Fukuda, Tokiko; Sugie, Hideo; Inui, Ayano; Murayama, Kei

Ichimoto, Keiko; Fujisawa, Tomoo; Shimura, Masaru; Fushimi, Takuya; Tajika, Makiko; Matsunaga, Ayako; Ogawa-Tominaga, Minako; Akiyama, Nana; Naruke, Yuki; Horie, Hiroshi; Fukuda, Tokiko; Sugie, Hideo; Inui, Ayano; Murayama, Kei.

Affiliation

Ichimoto K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Fujisawa T; Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohama-shi Tobu Hospital, 3-6-1 Shimosueyoshi, Tsurumi-ku, Yokohama 230-8765, Japan.
Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Fushimi T; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Tajika M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Matsunaga A; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Ogawa-Tominaga M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Akiyama N; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Naruke Y; Department of Pathology, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Horie H; Department of Pathology, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Fukuda T; Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan.
Sugie H; Faculty of Health and Medical Sciences, Tokoha University, 1230 Miyakodachou, Kita-ku, Hamamatsu 431-2102, Japan.
Inui A; Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohama-shi Tobu Hospital, 3-6-1 Shimosueyoshi, Tsurumi-ku, Yokohama 230-8765, Japan.
Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.

Mol Genet Metab Rep ; 24: 100601, 2020 Sep.

Article in En | MEDLINE | ID: mdl-32455116

Key words

ALT, alanine aminotransferase; AST, aspartate transaminase; Andersen disease; COI, cut-off index; GBE, glycogen-branching enzyme; GBE1; GSD IV; GSD IV, Glycogen storage disease type IV; M2BPGi; M2BPGi, Mac-2 binding protein glycosylation isomer; Nutrition therapy; PAS, periodic acid-Schiff; PAS-D, periodic acid-Schiff-diastase; SD, standard deviation; Î³-GTP, gamma-glutamyltransferase

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2020 Document type: Article Affiliation country:

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2020 Document type: Article Affiliation country: