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PubPharm (13)
1
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Williams, M.
|
Menkovic, I.
|
Reitnauer, P.
| +4
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2
Nasal herpes simplex virus infection
enthalten in:
Cleveland Clinic journal of medicine
| 2022
von
Tamashunas, N.
|
Simonds, R.
|
Young, S.
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3
Partial Response to Small Molecule Inhibition in a Case of Anaplastic Large Cell Lymphoma
enthalten in:
Cureus
| 2022
von
Young, S.
|
Kuzu, A.
|
Magill, M.
| +1
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4
Implementation and assessment of an end-to-end Open Science & Data Collaborations program
enthalten in:
F1000Research
| 2022
von
Wang, H.
|
Gainey, M.
|
Campbell, P.
| +2
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5
Large sacral/buttocks ulcerations in the setting of coagulopathy : A case series establishing the skin as a target organ of significant damage and potential morbidity in patients with severe COVID-19
enthalten in:
International wound journal
| 2020
von
Young, S.
|
Narang, J.
|
Kumar, S.
| +5
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6
Severe, Fatal Methotrexate-related Neurotoxicity in 2 Adolescent Patients With ALL
enthalten in:
Journal of pediatric hematology/oncology
| 2020
von
Dabagh, S.
|
David, H.
|
Young, S.
| +2
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7
Massive eucalyptus oil overdose
enthalten in:
Internal medicine journal
| 2017
von
Young, S.
|
O'Driscoll, R.
|
Antony, M.
| +1
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8
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis
enthalten in:
Molecular genetics and metabolism reports
| 2015
von
Mori, M.
|
Goldstein, J.
|
Young, S.
| +3
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9
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia
enthalten in:
Human molecular genetics
| 2014
von
Houten, S.
|
Denis, S.
|
Te Brinke, H.
| +10
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10
Quantitative computed tomography for enzyme replacement therapy in Pompe disease
enthalten in:
Brain & development
| 2012
von
Yonee, C.
|
Toyoshima, M.
|
Young, S.
| +7
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Thema: Case Reports
Medienart
13
Aufsätze
13
E-Artikel
13
E-Ressourcen
Zeitschriftentitel
3
Molecular genetics and metabolism
2
Molecular genetics and metabolism reports
1
Brain & development
1
Cleveland Clinic journal of medicine
1
Cureus
1
F1000Research
1
Human molecular genetics
1
Internal medicine journal
1
International wound journal
1
Journal of pediatric hematology/oncology
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Thema
Case Reports
7
Journal Article
3
EC 3.2.1.20
3
alpha-Glucosidases
2
33X04XA5AT
2
GAA protein, human
2
Lactic Acid
2
Letter
2
Research Support, Non-U.S. Gov't
1
0DHU5B8D6V
1
16291-96-6
1
2,4-dienoyl-CoA reductase
1
35175-16-7
1
4-hydroxy-6-methyl-2-pyrone
1
53-59-8
1
9005-79-2
1
Academic Libraries
1
Antidepressive Agents, Second-Generation
1
Antidotes
1
Antimetabolites, Antineoplastic
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Erscheinungszeitraum
6
2020-
6
2010-2019
1
2000-2009
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Englisch
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