E-LIB Suche - Ergebnisse für: Kojima‐Ishii, Kanako

1

Rapid and long‐lasting efficacy of high‐dose ambroxol thera..:

Higashi, Kanako ; Sonoda, Yuri ; Kaku, Noriyuki...
Molecular Genetics & Genomic Medicine. 12 (2024) 4 - p. , 2024

Link: https://doi.org/10.1002/..

2

A preterm newborn‐onset juvenile myelomonocytic leukemia‐li..:

Yamamoto, Shunsuke ; Nakao, Shingo ; Inoue, Hirosuke...
Pediatric Blood & Cancer. 70 (2022) 2 - p. , 2022

Link: https://doi.org/10.1002/..

3

The earliest enzyme replacement for infantile‐onset Pompe d..:

Tocan, Vlad ; Mushimoto, Yuichi ; Kojima‐Ishii, Kanako...
Pediatrics International. 64 (2022) 1 - p. , 2022

Link: https://doi.org/10.1111/..

4

Clinical manifestation and long‐term outcome of citrin defi..:

Kido, Jun ; Häberle, Johannes ; Sugawara, Keishin...
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 431-444 , 2022

Link: https://doi.org/10.1002/..

5

Growth impairment in individuals with citrin deficiency:

Numakura, Chikahiko ; Tamiya, Gen ; Ueki, Masao...
Journal of Inherited Metabolic Disease. 42 (2019) 3 - p. 501-508 , 2019

Link: https://doi.org/10.1002/..

6

Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos,..:

Toda, Naoko ; Ihara, Kenji ; Kojima‐Ishii, Kanako...
American Journal of Medical Genetics Part A. 173 (2016) 2 - p. 360-367 , 2016

Link: https://doi.org/10.1002/..

7

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome:

Matsuo, Terumichi ; Ihara, Kenji ; Ochiai, Masayuki...
American Journal of Medical Genetics Part A. 161 (2012) 1 - p. 34-37 , 2012

Link: https://doi.org/10.1002/..

8

Biotin Deficiency in a Glycogen Storage Disease Type 1b Gir..:

IHARA, Kenji ; ABE, KIYOMI ; HAYAKAWA, KOU...
Pediatric Dermatology. 28 (2011) 3 - p. 339-341 , 2011

Link: https://doi.org/10.1111/..

9

Case Report: Juvenile Myelomonocytic Leukemia Underlying Or..:

Eguchi, Hiroi ; Kakiuchi, Toshihiko ; Nishi, Masanori...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Physical, cognitive, and social status of patients with ure..:

Kido, Jun ; Matsumoto, Shirou ; Ito, Tetsuya...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100724 , 2021

Link: https://doi.org/10.1016/..

11

Current status of newborn screening for Pompe disease in Ja..:

Sawada, Takaaki ; Kido, Jun ; Sugawara, Keishin...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

12

BCS1L mutations produce Fanconi syndrome with developmental..:

Kanako, Kojima-Ishii ; Sakakibara, Nana ; Murayama, Kei...
Journal of Human Genetics. 67 (2021) 3 - p. 143-148 , 2021

Link: https://doi.org/10.1038/..

13

Malignant transformation of phosphaturic mesenchymal tumor:..:

Oyama, Noriko ; Kojima-Ishii, Kanako ; Toda, Naoko...
Clinical Pediatric Endocrinology. 29 (2020) 2 - p. 69-75 , 2020

Link: https://doi.org/10.1297/..

14

Metabolic and immunological assessment of small-for-gestati..:

Kojima-Ishii, Kanako ; Toda, Naoko ; Okubo, Kazuhiro...
Endocrine Journal. 65 (2018) 4 - p. 449-459 , 2018

Link: https://doi.org/10.1507/..

15

Reappraising newborn screening for cobalamin C disorder:

Tocan, Vlad ; Ohkubo, Kazuhiro ; Higashi, Kanako...
Pediatrics & Neonatology. 59 (2018) 4 - p. 415-417 , 2018

Link: https://doi.org/10.1016/..