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1.
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
Neurol Sci
; 40(7): 1453-1455, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30778879
2.
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
Eur J Pediatr
; 168(9): 1069-74, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19066956
3.
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?
J Inherit Metab Dis
; 31 Suppl 2: S227-31, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18437526
4.
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Neuromuscul Disord
; 28(11): 956-960, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30126629
5.
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.
Am J Med Genet
; 86(1): 82-5, 1999 Sep 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-10440835
6.
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
Am J Med Genet
; 63(2): 366-72, 1996 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-8725787
7.
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.
Horm Res Paediatr
; 81(1): 55-62, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24401800
8.
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience.
Acta Otorhinolaryngol Ital
; 33(4): 267-72, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24043915
9.
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
Eur J Paediatr Neurol
; 16(2): 203-5, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21868270
10.
Epilepsy in inherited metabolic disorders: a pediatric series.
Minerva Pediatr
; 64(5): 513-20, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22992533
11.
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
J Inherit Metab Dis
; 29(1): 186-9, 2006 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-16601889
12.
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
J Inherit Metab Dis
; 28(1): 69-80, 2005.
Artículo
en Inglés
| MEDLINE | ID: mdl-15702407
13.
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.
Neuropediatrics
; 31(1): 39-41, 2000 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-10774995
14.
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.
Acta Paediatr
; 92(12): 1415-21, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14971792
15.
[Children weeping during medical examination]. / Considerazioni sul pianto del bambino nel corso della visita medica.
Riv Clin Pediatr
; 81(6): 1210-4, 1968.
Artículo
en Italiano
| MEDLINE | ID: mdl-5759396
16.
[Bronchial asthma in childhood with special reference to vaccine therapy]. / Sull'asma bronchiale del bambino con particolare riguardo alla vaccinoterapia.
Minerva Pediatr
; 21(34): 1598-603, 1969 Aug.
Artículo
en Italiano
| MEDLINE | ID: mdl-5404712
17.
[On the therapy of infectious bronchopneumopathies in children]. / Sulla terapia delle bronco-pneumopatie infettive nell'infanzia.
Minerva Pediatr
; 19(10): 457-62, 1967 Mar 10.
Artículo
en Italiano
| MEDLINE | ID: mdl-5607051
18.
Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement.
Neuropediatrics
; 31(3): 164-6, 2000 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-10963108
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