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PubPharm (246)
1
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease : A case report and literature review
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Higashi, K.
|
Sonoda, Y.
|
Kaku, N.
| +26
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2
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan
enthalten in:
International journal of hematology
| 2024
von
Ishimura, M.
|
Eguchi, K.
|
Sonoda, M.
| +12
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3
Patients With Subacute Sclerosing Panencephalitis in Japan : A 2022 Nationwide Survey
enthalten in:
The Pediatric infectious disease journal
| 2024
von
Okabe, H.
|
Hashimoto, K.
|
Norito, S.
| +10
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4
High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome
enthalten in:
International journal of molecular sciences
| 2024
von
Tocan, V.
|
Nakamura-Utsunomiya, A.
|
Sonoda, Y.
| +18
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5
The Etiology and Outcome of Area Postrema Syndrome in Childhood : Two Cases and a Literature Review
enthalten in:
Pediatric neurology
| 2024
von
Tomari, Y.
|
Igata, Y.
|
Chong, P.
| +8
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6
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children : Nationwide epidemiological study
enthalten in:
Journal of the neurological sciences
| 2024
von
Kasai, M.
|
Sakuma, H.
|
Abe, Y.
| +63
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7
Divergent neurodevelopmental profiles of very-low-birth-weight infants
enthalten in:
Pediatric research
| 2024
von
Ogata, R.
|
Watanabe, K.
|
Chong, P.
| +12
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8
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder : A case report and review of the literature
enthalten in:
European journal of medical genetics
| 2024
von
Sonoda, Y.
|
Fujita, A.
|
Torio, M.
| +18
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9
CD14 down-modulation as a real-time biomarker in Kawasaki disease
enthalten in:
Clinical & translational immunology
| 2024
von
Inada, Y.
|
Sonoda, M.
|
Mizuno, Y.
| +12
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10
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
enthalten in:
The Journal of clinical investigation
| 2024
von
Li, D.
|
Wang, Q.
|
Bayat, A.
| +98
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International journal of hematology
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EC 2.7.11.1
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6
Nerve Tissue Proteins
5
Acute encephalopathy
5
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5
EC 3.1.3.2
5
Membrane Proteins
5
Mitochondria
5
Phosphoric Monoester Hydrolases
5
Whole-exome sequencing
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139307-94-1
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8-oxodeoxyguanosine triphosphate
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8L70Q75FXE
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