Roberto Giugliani
机构: Head of Rare Diseases DASA, Founder CASA DOS RAROS, Med Genet Serv HCPA, Dep Genetics & PPGBM UFRGS
每年引用次数
引用次数
引用: 28,496
H-指数: 88
I10-指数 : 451
出版物: 1,683
Genetic predisposition to febrile convulsions: a preliminary study
Cesar Noronha Raffin , Roberto Giuoliani , Jorge Armbrust-Fgueiredo
Arquivos De Neuro-psiquiatria 38 ( 4) 327 -330
1980
PREGNANCY-RELATED OUTCOMES IN FEMALES WITH FABRY DISEASE: FABRY OUTCOME SURVEY AND OTHER POSTMARKETING SAFETY DATA
MA Barba-Romero , S Larroque , PB Deegan , DA Hughes
JOURNAL OF INHERITED METABOLIC DISEASE , 35 S91-S91. (2012)
2012
DELAYED MENARCHE AND EARLY MENOPAUSE IN FEMALES WITH FABRY DISEASE
MA Barba-Romero , PB Deegan , D Hughes , CE Hollak
2011
MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME): DEVELOPMENT OF CLINICAL AND LABORATORY GUIDELINES FOR DIAGNOSIS
M Fietz , D Ketteridge , NJ Mendelsohn , C Eng
JOURNAL OF INHERITED METABOLIC DISEASE , 34 S211-S211. (2011)
2011
STROKE IN FABRY DISEASE: GENOTYPE-PHENOTYPE CORRELATION
R Manara , L Ginsberg , S Larroque , A Burlina
JOURNAL OF INHERITED METABOLIC DISEASE , 35 S93-S93. (2012)
1
2012
A schedule for the detection of metabolic disorders in subjects with urolithiasis
R Giugliani , I Ferrari
AMB : revista da Associação Médica Brasileira 27 ( 5) 163 -164
1981
EARLY CLINICAL MANIFESTATIONS IN PATIENTS DIAGNOSED WITH HUNTER SYNDROME: DATA FROM THE HUNTER OUTCOME SURVEY
J Muenzer , G Malm , J E Wraith , M Beck
Archives of Disease in Childhood 93
2008
THE ROLE OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN NEONATAL JAUNDICE: A STUDY IN A NEONATAL INTENSIVE CARE UNIT IN SOUTH BRAZIL
R Giugliani , F G Carvalho , C G Carvalho , C F Zaleski
Archives of Disease in Childhood 93
2008
Results of the porto alegre cystinuria screening program
G J Padovan , R Giugliani , M L Barth , M C K Giugliani
Arquivos de Biologia e Tecnologia 31 ( 1) 66
1988
GENE EDITING OF FIBROBLAST-LIKE SYNOVIOCYTES FROM MUCOPOLYSACCHARIDOSIS TYPE I MICE WITH THE CRISPR-CAS9 SYSTEM
R Giugliani , G Rodrigues , G Baldo , U Matte
Cytotherapy 23 ( 4) 16
2021
PND2 THE FABRY OUTCOME SURVEY (FOS): A DATABASE OF PROSPECTIVE OBSERVATIONS ONTHE NATURAL HISTORY AND MANAGEMENT OF A RARE DISEASE
J Clarke , M Beck , R Giugliani , G Sunder-Plassmann
Value in Health 11 ( 3)
2008
PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey
J Muenzer , R Giugliani , M Scarpa , A Tanaka
Archives of Disease in Childhood 99
1
2014
Biochemical studies on leukocyte and fibroblast human β-galactosidase
J.C Coelho , A.M.I Sopelsa , P.R Tobo , M.H.A Severini
Clinical Biochemistry 32 ( 3) 167 -170
7
1999
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
M B Viana , R Giugliani , V H Leite , M L Barth
Journal of Medical Genetics 27 ( 8) 499 -504
39
1990
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey
A Mehta , J T R Clarke , R Giugliani , P Elliott
Journal of Medical Genetics 46 ( 8) 548 -552
191
2009
1029 Polymorphic Variants of Ugt1A1 in Neonatal Jaundice in Southern Brazil
C G Carvalho , S M Castro , A P Santin , L A De Azevedo
Pediatric Research 68 ( 1) 511 -512
2010
169 Update on Enzyme Replacement Therapy (ERT) with Recombinant Human Arylsulfatase B (RHASB) for MPS VI (Maroteaux-Lamy)
P Harmatz , R Giugliani , I Schwartz , N Guffon
Pediatric Research 58 ( 2) 383 -383
2005
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
ACMM Azevedo , IV Schwartz , L Kalakun , S Brustolin
Clinical Genetics 66 ( 3) 208 -213
90
2004
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings.
Alexis Trott , Laura Bannach Jardim , Henrique Tschoepke Ludwig , Jonas Alex Morales Saute
Clinical Genetics 70 ( 2) 173 -176
24
2006
Does geographical location influence the phenotype of Fabry disease in women in Europe
M-Ã Barba-Romero , P Deegan , R Giugliani , D Hughes
Clinical Genetics 77 ( 2) 131 -140
13
2010