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topic_facet:"Case Reports"
journalStr:"Journal of pediatric endocrinology & metabolism : JPEM"
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PubPharm (374)
1
Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Sriram, S.
|
Shahid, N.
|
Mysliwiec D, D.
| +3
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2
A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Touwslager, R.
|
Zwaan, C.
|
Bakker, B.
| +3
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3
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene : case report and review of literature
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Sürücü Kara, .
|
Köse, E.
|
Çavdarlı, B.
| +1
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4
A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Oto, Y.
|
Suzuki, D.
|
Morita, T.
| +7
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5
Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Dokurel Çetin, .
|
Betül Gerik-Çelebi, H.
|
Demiral, M.
| +1
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6
Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants : a case report with 6 years follow-up
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Hui, P.
|
Chen, C.
|
Sang, Y.
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7
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Odom, J.
|
Bacino, C.
|
Karaviti, L.
| +2
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8
Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid : a case report
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2023
von
Zheng, Z.
|
Wu, Y.
|
Wu, H.
| +4
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9
Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2023
von
Gragnaniello, V.
|
Gueraldi, D.
|
Puma, A.
| +5
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10
The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome : a case report
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2023
von
Ping, Y.
|
Luo, L.
|
Chen, Y.
| +3
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Thema: Case Reports
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Zeitschrift: Journal of pediatric endocrinology & metabolism : JPEM
Medienart
374
Aufsätze
238
E-Artikel
238
E-Ressourcen
136
Gedruckte Aufsätze
Zeitschriftentitel
Journal of pediatric endocrinology & metabolism...
Thema
Case Reports
276
Journal Article
102
12629-01-5
102
Human Growth Hormone
43
Research Support, Non-U.S. Gov't
26
Review
20
67763-96-6
20
Insulin-Like Growth Factor I
19
ABCC8 protein, human
19
Sulfonylurea Receptors
19
Transcription Factors
14
DAX-1 Orphan Nuclear Receptor
14
EC 2.7.10.1
14
NR0B1 protein, human
13
Recombinant Proteins
12
Biomarkers
12
EC 3.6.1.-
12
EC 3.6.5.1
12
GTP-Binding Protein alpha Subunits, Gs
11
9002-72-6
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Erscheinungszeitraum
316
2000-
9
1900-1999
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374
Englisch
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