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First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
Ital J Pediatr. 2021 Jun 2;47(1):128. doi: 10.1186/s13052-021-01078-5.
Ital J Pediatr. 2021.
PMID: 34078430
Free PMC article.
Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.
Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F.
Giuffrè B, et al.
J Inherit Metab Dis. 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb.
J Inherit Metab Dis. 2004.
PMID: 15669676
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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C.
Bruno C, et al.
Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d.
Neurology. 2004.
PMID: 15452297
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Successful use of tissue plasminogen activator (t-PA) in catheter-related intracardiac thrombi of two premature infants.
Giuffrè B, Compagnoni G, Farina C, Mosca F.
Giuffrè B, et al.
Acta Paediatr. 1998 Jun;87(6):695-8. doi: 10.1080/080352598750014148.
Acta Paediatr. 1998.
PMID: 9686666
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CoQ10 plasmatic levels in breast-fed infants compared to formula-fed infants.
Compagnoni G, Giuffrè B, Lista G, Mosca F, Marini A.
Compagnoni G, et al.
Biol Neonate. 2004;86(3):165-9. doi: 10.1159/000079393. Epub 2004 Jun 29.
Biol Neonate. 2004.
PMID: 15237239
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Coenzyme Q10 levels in maternal plasma and cord blood:correlations with mode of delivery.
Compagnoni G, Lista G, Giuffrè B, Mosca F, Marini A.
Compagnoni G, et al.
Biol Neonate. 2004;86(2):104-7. doi: 10.1159/000078382. Epub 2004 May 5.
Biol Neonate. 2004.
PMID: 15133315
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Tyrosinaemia type Ia without excess of urinary succinylacetone.
Biasucci G, Giuffré B, La Grutta S, Riva E.
Biasucci G, et al.
J Inherit Metab Dis. 1993;16(6):1056-7. doi: 10.1007/BF00711532.
J Inherit Metab Dis. 1993.
PMID: 8127063
No abstract available.
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Acute hemorrhagic edema of infancy (AHEI): Alarming cutaneous presentation of a benign and self-limited disease.
Tumminello M, Lo Scalzo L, Gangemi A, Matina F, Termini D, Guardino M, Piraino G, Giuffrè BL, Corsello G.
Tumminello M, et al. Among authors: giuffre bl.
Clin Case Rep. 2022 Dec 12;10(12):e6383. doi: 10.1002/ccr3.6383. eCollection 2022 Dec.
Clin Case Rep. 2022.
PMID: 36518915
Free PMC article.
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