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PubPharm (9)
1
Galactose epimerase deficiency : lessons from the GalNet registry
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Derks, B.
|
Demirbas, D.
|
Arantes, R.
| +16
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2
Galactose epimerase deficiency: lessons from the GalNet registry
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Derks, B.
|
Demirbas, D.
|
Arantes, R.
| +16
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3
Galactose epimerase deficiency: lessons from the GalNet registry
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Derks, B.
|
Demirbas, D.
|
Arantes, R.
| +16
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4
Growth Hormone insensitivity (Laron syndrome) : Report of a new family and review of Brazilian patients
enthalten in:
Genetics and molecular biology
| 2020
von
Villela, T.
|
Freire, B.
|
Braga, N.
| +4
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5
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil
enthalten in:
American journal of medical genetics. Part A
| 2019
von
Carvalho, N.
|
Del Castillo, D.
|
Januário, J.
| +4
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6
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2019
von
Carvalho, N.
|
Castillo, D.
|
Januário, J.
| +4
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7
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia : Clinical, chromosomal and aCGH characterization
enthalten in:
Meta gene
| 2016
von
Linhares, N.
|
Valadares, E.
|
da Costa, S.
| +5
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8
In vitro antifungal susceptibility of clinical isolates of Candida spp. obtained from patients with different predisposing factors to candidosis
enthalten in:
Microbiological research
| 2008
von
Pinto, P.
|
Weikert-Oliveira, R.
|
Lyon, J.
| +4
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9
In vitro antifungal susceptibility of clinical isolates of Candida spp. obtained from patients with different predisposing factors to candidosis
enthalten in:
Microbiological research
| 2008
von
Pinto, P.
|
Weikert-Oliveira, R.
|
Lyon, J.
| +4
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1
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5
Journal Article
3
Galactose epimerase deficiency
3
Galactose-restricted diet
3
Galactosemia type III
3
Galactosemias Network
2
Research Support, Non-U.S. Gov't
1
5-BrdU, 5-bromodeoxyuridine
1
ATRX protein
1
ATRX, alpha thalassemia/mental retardation synd...
1
Antifungal Agents
1
BTD gene
1
CKT, creatinine kinase-phospho-total
1
CNV, copy number variation
1
CT, computed tomography
1
EC 5.1.3.2
1
FISH, fluorescence in situ hybridization
1
HDAC8, histone deacetylase 8
1
JPX, JPX transcript
1
Mitochondrial disease
1
NMR, nuclear magnetic resonance
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