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/vufind/Search/Results?lookfor=%22Ferreira%2C+Carlos+R%22&type=Person&sort=year
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PubPharm (172)
1
Clinical and biochemical footprints of congenital disorders of glycosylation : Proposed nosology
enthalten in:
Molecular genetics and metabolism
| 2024
von
Ng, B.
|
Freeze, H.
|
Himmelreich, N.
| +2
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2
Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC)
enthalten in:
Vascular medicine (London, England)
| 2024
von
Ferrante, E.
|
Cudrici, C.
|
Rashidi, M.
| +12
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3
CIAO1 and MMS19 deficiency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
van Karnebeek, C.
|
Tarailo-Graovac, M.
|
Leen, R.
| +40
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4
ENPP1 in Blood and Bone : Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
enthalten in:
Annual review of pathology
| 2024
von
Ferreira, C.
|
Carpenter, T.
|
Braddock, D.
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5
Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities
enthalten in:
Molecular genetics and metabolism
| 2023
von
Dunlea, E.
|
Crushell, E.
|
Cotter, M.
| +2
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6
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome : a study of 53 patients and review of the literature
enthalten in:
Journal of medical genetics
| 2023
von
Peluso, F.
|
Caraffi, S.
|
Contrò, G.
| +62
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7
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies
enthalten in:
Molecular genetics and metabolism
| 2023
von
Latzer, I.
|
Blau, N.
|
Ferreira, C.
| +1
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8
Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations
enthalten in:
Molecular genetics and metabolism
| 2023
von
Rossi, A.
|
Basilicata, S.
|
Borrelli, M.
| +3
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9
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases
enthalten in:
Molecular genetics and metabolism
| 2023
von
Schumann, A.
|
Schultheiss, U.
|
Ferreira, C.
| +1
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10
Identification of potential non-invasive biomarkers in diastrophic dysplasia
enthalten in:
Bone
| 2023
von
Paganini, C.
|
Carroll, R.
|
Gramegna Tota, C.
| +16
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169
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Zeitschriftentitel
22
Molecular genetics and metabolism
20
American journal of medical genetics. Part A
12
Journal of inherited metabolic disease
10
Orphanet journal of rare diseases
7
American Journal of Medical Genetics Part C: Se...
7
Genetics in medicine : official journal of the ...
5
Journal of bone and mineral research : the offi...
4
Acta neuropathologica
4
American journal of human genetics
4
Current osteoporosis reports
4
Human mutation
4
Journal of Inherited Metabolic Disease
4
Journal of clinical immunology
4
Molecular genetics & genomic medicine
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Molecular genetics and metabolism reports
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Translational science of rare diseases
3
BMC medical genetics
3
BMC nephrology
3
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Thema
105
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48
Research Support, Non-U.S. Gov't
34
Research Support, N.I.H., Intramural
34
Review
24
Research Support, N.I.H., Extramural
22
Case Reports
13
EC 3.6.1.-
10
EC 3.1.4.-
10
Inborn errors of metabolism
10
Phosphoric Diester Hydrolases
10
Pyrophosphatases
7
EC 3.1.4.1
7
ENPP1 deficiency
7
ectonucleotide pyrophosphatase phosphodiesterase 1
6
ENPP1
6
Inherited metabolic diseases
6
Prevalence
6
Systematic Review
5
Diagnosis
5
Inherited metabolic disease
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Erscheinungszeitraum
104
2020-
68
2010-2019
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