Suchergebnisse - "Seong, Moon-Woo"

PubPharm (5)

1

Early-onset autosomal dominant GTP-cyclohydrolase I deficiency : Diagnostic delay and residual motor signs

enthalten in: Brain & development | 2021

von Kim, W. | Cho, J. | Shim, Y. | +11

2

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy : A newly identified neurometabolic syndrome

enthalten in: Brain & development | 2020

von Park, J. | Kim, M. | Kim, S. | +5

3

Diagnostic challenge for the rare lysosomal storage disease : Late infantile GM1 gangliosidosis

enthalten in: Brain & development | 2018

von Lee, J. | Choi, J. | Lee, M. | +9

4

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome : the spectrum of brain MRI abnormalities

enthalten in: Brain & development | 2015

von Lee, J. | Byun, C. | Kim, H. | +8

5

Menkes disease in Korea : ATP7A mutation and epilepsy phenotype

enthalten in: Brain & development | 2015

von Lee, J. | Lim, B. | Kim, K. | +6

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