Detalhe da pesquisa
1.
Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
Herz
; 49(1): 75-80, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528297
2.
Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.
Int Arch Allergy Immunol
; 184(4): 370-375, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36623499
3.
Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
Klin Padiatr
; 234(4): 221-227, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35114702
4.
Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
Am J Med Genet A
; 185(9): 2739-2747, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960646
5.
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
J Bone Miner Metab
; 39(4): 598-605, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33404770
6.
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.
Ann Nutr Metab
; 76(4): 233-241, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32712609
7.
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features
Turk J Med Sci
; 50(4): 1048-1061, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011835
8.
Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells.
J Pediatr Hematol Oncol
; 40(3): 243-245, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28692552
9.
Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected.
J Pediatr Hematol Oncol
; 40(5): 355-359, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29746437
10.
Correction: Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
Klin Padiatr
; 2022 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172352
11.
Correction: Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
Klin Padiatr
; 2022 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226927
12.
Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia.
J Trop Pediatr
; 61(2): 146-50, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25673572
13.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat
; 35(4): 424-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488861
14.
Home sleep study characteristics in patients with mucopolysaccharidosis.
Sleep Breath
; 18(1): 143-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23690022
15.
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.
Metab Brain Dis
; 29(1): 211-3, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407464
16.
BCS1L gene mutation causing GRACILE syndrome: case report.
Ren Fail
; 36(6): 953-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24655110
17.
Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.
Paediatr Drugs
; 26(3): 287-308, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664313
18.
Intestinal microbiota composition of children with glycogen storage Type I patients.
Eur J Clin Nutr
; 78(5): 407-412, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38402355
19.
A 7-year-old boy with scurvy owing to coeliac disease.
Paediatr Int Child Health
; : 1-5, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38695492
20.
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.
J Pediatr Endocrinol Metab
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630895