Roberto Giugliani

Dados pessoais Membro

Publicações

Total: 1765

Área temática ASJC

Percentual das publicações classificadas

  • HS Ciências da Saúde
  • LS Ciências da Vida
  • MU Multidisciplinar
  • PS Ciências Físicas
  • SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Termos frequentes nas publicações

Nuvem de termos dos títulos das publicações
Nome Vínculo Links Grande área de atuação Área de atuação
Alicia Matijasevich MANITTO Ciências da Saúde Saúde Coletiva
Ana Maria Marques Da SILVA Ciências Exatas e da Terra Física
Bernardo Lessa HORTA Ciências da Saúde Medicina
Bruno Duarte GOMES Membro Ciências Biológicas Fisiologia
Carlos Alberto Saraiva GONÇALVES Membro Ciências Biológicas Bioquímica
Carlos Alexandre NETTO Membro Ciências Biológicas Bioquímica
Carmen Lucia Bezerra MACHADO Ciências Humanas Educação
Chong Ae KIM Ciências da Saúde Medicina
Christian Costa KIELING Ciências da Saúde Medicina
Dafne Dain Gandelman HOROVITZ Ciências da Saúde Medicina
Decio BRUNONI Ciências Biológicas Genética
Diogo Onofre Gomes De SOUZA Ciências Biológicas Bioquímica
Jaderson Costa Da COSTA Membro Ciências da Saúde Medicina
Jair Licio Ferreira SANTOS Ciências Sociais Aplicadas Demografia
Juan Clinton Llerena JUNIOR Ciências da Saúde Medicina
Luciana Neves NUNES Ciências Humanas Educação
Maria Raquel Santos CARVALHO Ciências Biológicas Genética
Paulo Ricardo Gazzola ZEN Ciências da Saúde Medicina
Vânia D ALMEIDA Membro Ciências Biológicas Bioquímica
Vera Maria Treis TRINDADE Ciências Biológicas Bioquímica
Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 45

Mapa de calor das categorias ASJC por ano
Categoria ASJC19801981198219831984198519861987198819891990199119921993199419951996199719981999200020012002200320042005200620072008200920102011201220132014201520162017201820192020202120222023202420252026
2716 · Genetics (clinical)111101410111641664723121911423735453933164861497594771467471
1311 · Genetics01001220025201225810221313252822371618221264156633674462220
2701 · Medicine (miscellaneous)000111312010133125714101426232535173233815854638524550111
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)00001001031100021039273129148203402518665633442000
2735 · Pediatrics; Perinatology and Child Health00000000001220131311230025462222302102101020110
2712 · Endocrinology; Diabetes and Metabolism00000000000000000201038015545100001001001000221
2728 · Neurology (clinical)00000001000100000110131004311100300212000101010
1308 · Clinical Biochemistry00100000000000000002110015221211012013000010000
1312 · Molecular Biology00000000000020000110300000120111403002101102001
2700 · General Medicine00010000102000000000201011001000100210110101000
2736 · Pharmacology (medical)00000000000010000011000020200010100010100010120
1303 · Biochemistry00000010000000000000112011001100000000100001020
2808 · Neurology00000000000000000000021202210000000000201000000
2713 · Epidemiology00000000000100000000012002100100000000000010111
2704 · Biochemistry (medical)00000000000000000000001213000010000000000000101
2739 · Public Health; Environmental and Occupational Health00000000000000000000000000001010011010010002110
2741 · Radiology; Nuclear Medicine and Imaging00000000000000000000000031110000000101001100000
2724 · Internal Medicine00000000000000000000000000100010000000010001122
2730 · Oncology00000000000000000000010020400000001000000000010
3201 · Psychology (miscellaneous)10010000000000010011100001100100000000000000000
1306 · Cancer Research00000000000000000000000002002000400000000000000
1307 · Cell Biology00000000000000000010000010031010000010000000000
2801 · Neuroscience (miscellaneous)10000000000000000000001300001000000101000000000
2705 · Cardiology and Cardiovascular Medicine00000000000000000000010001001010000011000000001
1402 · Accounting00000000000000000000001010000000020000000000200
2725 · Infectious Diseases00000000000000000000000001031001000000000000000
1309 · Developmental Biology00000000000000000010011000110000000000000000000
2710 · Embryology00000000000000001000011010010000000000000000000
2729 · Obstetrics and Gynecology00000000000000000011101010000000000000000000000
2748 · Urology22000001000000000000000000000000000000000000000
1305 · Biotechnology00000000000000000000000000000000000000010000021
1314 · Physiology00000000000000000000002100000000000000000100000
2719 · Health Policy00000000000000000000000000100001000000000001010
2919 · Pediatrics01000000000000000000000000001000100001000000000
3001 · Pharmacology; Toxicology and Pharmaceutics (miscellaneous)00000000000000000000000000000000010111000000000
3004 · Pharmacology00000000000000000000000010000100020000000000000
1103 · Animal Science and Zoology00000000000000000000001010100000000000000000000
1313 · Molecular Medicine00000000000000000000000001000000000000000001010
2401 · Immunology and Microbiology (miscellaneous)00000000000000000000001000001000000000100000000
2723 · Immunology and Allergy00000000000000000000000000001001000100000000000
3501 · Dentistry (miscellaneous)00000000000000000000000000100000110000000000000
1300 · General Biochemistry; Genetics and Molecular Biology00000000000000000000000000000000010000010000000
1310 · Endocrinology00000100000000000000000000000000100000000000000
2708 · Dermatology00000000000000000000000000100100000000000000000
2738 · Psychiatry and Mental Health00000000000000000010000000001000000000000000000
2740 · Pulmonary and Respiratory Medicine00000000000000000000000010010000000000000000000
2743 · Reproductive Medicine00000000000000000000001001000000000000000000000
2916 · Nutrition and Dietetics00000000000000000000000000001000000010000000000
3003 · Pharmaceutical Science00000000000000000000000000000000000000000000200
3301 · Social Sciences (miscellaneous)00000000000000000000000000000000100000000010000
1000 · Multidisciplinary00000000000000000000000010000000000000000000000
1202 · History00000000000000000000000000000000000000000000100
1207 · History and Philosophy of Science00000000000000000000000000000000000000000000100
2301 · Environmental Science (miscellaneous)00000000000000000000000010000000000000000000000
2404 · Microbiology00000000000000000000100000000000000000000000000
2406 · Virology00000000000000000000000000100000000000000000000
2717 · Geriatrics and Gerontology00000000000000000000000000000000000000000000010
2718 · Health Informatics00000000000000000000001000000000000000000000000
2727 · Nephrology00000000000000000000000000001000000000000000000
2731 · Ophthalmology00000000000000000000010000000000000000000000000
2732 · Orthopedics and Sports Medicine00000000000000000000000000000000000000000000100
2734 · Pathology and Forensic Medicine00000000000000000000000010000000000000000000000
2737 · Physiology (medical)00000000000000000001000000000000000000000000000
2744 · Reviews and References (medical)00000000000000000000000010000000000000000000000
2802 · Behavioral Neuroscience00000000000000000000000000000000100000000000000
2901 · Nursing (miscellaneous)00000000000000000000000000001000000000000000000
2913 · Maternity and Midwifery00000000000000000000000010000000000000000000000
3005 · Toxicology00000000000000000000000000000100000000000000000
3204 · Developmental and Educational Psychology00000000000000000000000000000000000100000000000
3304 · Education00000000000000000000000000001000000000000000000
3601 · Health Professions (miscellaneous)00000000000000000000000000010000000000000000000
1765 publicação(ões)
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Ano Tipo Registro Área temática e categoria ASJC
2005 Trabalho em evento
FREE RADICALS AND ANTIOXIDANT DEFENSES IN X-LINKED ADRENOLEUKODYSTROPHY PATIENTS M DEON; Alethéa Gatto BARSCHAK; Ângela SITTA; S LANDGRAFF; G OLIVEIRA et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS
LS Genetics
2005 Trabalho em evento
PRENATAL KARYOTYPES FROM DIFFERENT ORGANIC MATERIAL BESIDES THE TRADITIONAL ONES R GUS; M T V SANSEVERINO; J A A MAGALHÃES; O A MAGALHÃES; Roberto GIUGLIANI 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS
HS Medicine (miscellaneous)
2005 Trabalho em evento
INTRATHECAL ENZYME REPLACEMENT THERAPY IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS AND SYMPTOMATIC SPINAL Roberto GIUGLIANI; M V MUNOZ; P DICKSON; Taiane Alves VIEIRA; R COSTA et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS
LS Genetics
2005 Trabalho em evento
IMPROVEMENT OF SYMPATHETIC SKIN RESPONSES AFTER ENZYME REPLACEMENT THERAPY IN FABRY DISEASE Cristina Brinckmann De Oliveira NETTO; L B JARDIM; J BECKER; D NORA; Ursula MATTE et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS
HS Genetics (clinical)
2005 Trabalho em evento
KIDNEY FUNCTION EVALUATION AFTER 24-MONTHS OF ENZYME REPLACEMENT THERAPY FOR FABRY DISEASE E BARROS; Cristina Brinckmann De Oliveira NETTO; C CECCHIN; M BURIN; S BRUSTOLIN et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS
HS Endocrinology; Diabetes and Metabolism
2005 Trabalho em evento
NONVIRAL GENE TRANSFER IN THE MUCOPOLYSACCHARIDOSIS I MURINE MODEL Ursula MATTE; M CAMASSOLA; L M BRAGA; A D CANEDO; T P DALBERTO et al 55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS
LS Genetics
2005 Trabalho em evento
ESTUDIOS DE PARAMETROS BIOQUÍMICOS DE LA ENZIMA CHITOTRIOSIDASA EN INDIVIDUOS NORMALES Y EN PACIENTES CON GANGLIOSIDOSIS GM1 Alessandro WAJNER; Kristiane MICHELIN; M G BURIN; R F PIRES; Roberto GIUGLIANI et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Genetics (clinical)
2005 Trabalho em evento
A RANDOMIZED; DOUBLE-BLIND; PLACEBO-CONTROLLED; MULTICENTER; MULTINATIONAL CLINICAL STUDY (PHASE III) OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4 SULFATASE (RHASB) IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO; L KALAKUN; Taiane Alves VIEIRA et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Pediatrics; Perinatology and Child Health
2005 Trabalho em evento
DIAGNOSIS OF MITOCHONDRIAL DISORDERS: APLLICATION OF A DNA-BASED PROTOCOL IN SELECTED PATIENTS C SOUZA; L LAYBAUER; N COPETTI; B CRUZ; M CERSKI et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
ENZYME ACTIVITIES IN DRIED-BLOOD FILTER PAPER SAMPLES FROM PATIENTS WITH SELECTED INHERITED LYSOSOMAL STORAGE DISEASES G CIVALLERO; Jurema Fátima De MARI; Marli Viapiana CAMELIER; Maira Graeff BURIN; Janice Carneiro COELHO et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2005 Trabalho em evento
SCREENING FOR NIEMANN-PICK DISEASE IN DRIED-BLOOD FILTER PAPER IN BRAZIL Janice Carneiro COELHO; M G BURIN; Marli Viapiana CAMELIER; Kristiane MICHELIN; Roberto GIUGLIANI et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2005 Trabalho em evento
SERVICE OF INFORMATION ON INBORN ERRORS OF METABOLISM (SIEM): RESULTS OF THE FIRST 3 YEARS OF A PIONEERING SERVICE IN BRAZIL S BRUSTOLIN; C M SOUZA; A B DETANICO; L REFOSCO; Ricardo Flores PIRES et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
TERAPIA DE REMPLAZO ENZIMATICO: PRIMER REPORTE EN UN PACIENTE CON MUCOPOLISACARIDOSIS I Y COMPRESIÓN MEDULAR Roberto GIUGLIANI; M V MUNOZ; P DICKSON; Taiane Alves VIEIRA; R COSTA et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
FABRY`S DISEASE AND HAEMODIALYSIS: DETERMINING A PROCEDURE FOR BLOOD COLLECTING ON A BRAZILIAN SCREENING A C F NUNES; A DELGADO; V DELGADO; D B PORSCH; V MILANI et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Genetics
2005 Trabalho em evento
INVESTIGATION OF INHERITED METABOLIC DISORDERS IN 700 HIGH-RISK PATIENTS: A STUDY IN STATE OF PARÁ (NORTH BRAZIL) N CASTRO; E SOUZA; L CUNHA; P FEIO; E ALVES et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
IMPROVEMENT OF SYMPATHETIC SKIN RESPONSES AFTER ENZYME REPLACEMENT THERAPY IN FABRY DISEASE L JARDIM; J BECKER; Cristina Brinckmann De Oliveira NETTO; D NORA; Ursula MATTE et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Genetics
2005 Trabalho em evento
PRELIMINAR RESULTS OF SCREENING FOR FABRY DISEASE USING DRIED BLOOD SPOTS ON FILTER PAPER M TSAO; M BURIN; A NUNES; E BARROS; F PEREIRA et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2005 Trabalho em evento
KIDNEY FUNCTION EVALUATION AFTER 24-MONTHS OF ENZYME REPLACEMENT THERAPY FOR FABRY DISEASE Cristina Brinckmann De Oliveira NETTO; C CECCHIN; M BURIN; Ursula MATTE; S BRUSTOLIN et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Genetics
2005 Trabalho em evento
CNS INVOLVEMENT IN FABRY`S DISEASE: AN IMAGE STUDY DURING 24 MONTHS OF ERT L JARDIM; E AESSE; L VEDOLIN; C PITTAPINHEIRO; J MARCONATO et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Genetics
2005 Trabalho em evento
ASSESSMENT OF ANEMIA IN 20 SOUTH-AMERICAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II ON ENZYME REPLACEMENT THERAPY A PUGA; Louise Lapagesse De Camargo PINTO; María Verónica Rojas MUNOZ; Roberto GIUGLIANI CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
THE WORK OF A NGO INSTITUTO CANGURU IN BRAZIL; WITH INHERITED METABOLIC DISEASE C MICHELETTI; R B OLIVEIRA; S ARAUJO; A FONSECA; VIEIRA et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
DETECTION OF 24-BP DUPLICATION IN THE CHITOTRIOSIDASE GENE BY REAL TIME PCR: FREQUENCY IN THE BRAZILIAN POPULATION H BOCK; Kristiane MICHELIN; Alessandro WAJNER; Roberto GIUGLIANI; R F PIRES et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
METACHROMATIC LEUKODISTROPHY: APLICATION OF REAL TIME PCR FOR DETECTING COMMON MUTATIONS IN BRAZILIAN PATIENTS H BOCK; Jurema Fátima De MARI; M G BURIN; Ursula MATTE; Roberto GIUGLIANI et al CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2005 Trabalho em evento
OVERVIEW AND DIFFERENTIAL DIAGNOSIS FOR MPS I Roberto GIUGLIANI X SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
EVALUATION AND IDENTIFICATION OF ORAL; MAXILLOFACIAL; AND OFTALMOLOGICAL CHANGES IN PATIENTS WITH MUCOPOLYSACCHARIDOSES Luiz Carlos Santana Da SILVA; P FEIO; N CASTRO; G SOUZA; B GOMES et al X SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL
HS Medicine (miscellaneous)
2005 Trabalho em evento
LS Genetics

FREE RADICALS AND ANTIOXIDANT DEFENSES IN X-LINKED ADRENOLEUKODYSTROPHY PATIENTS

55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS

M DEON; Alethéa Gatto BARSCHAK; Ângela SITTA; S LANDGRAFF; G OLIVEIRA et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

PRENATAL KARYOTYPES FROM DIFFERENT ORGANIC MATERIAL BESIDES THE TRADITIONAL ONES

55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS

R GUS; M T V SANSEVERINO; J A A MAGALHÃES; O A MAGALHÃES; Roberto GIUGLIANI

2005 Trabalho em evento
LS Genetics

INTRATHECAL ENZYME REPLACEMENT THERAPY IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS AND SYMPTOMATIC SPINAL

55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS

Roberto GIUGLIANI; M V MUNOZ; P DICKSON; Taiane Alves VIEIRA; R COSTA et al

2005 Trabalho em evento
HS Genetics (clinical)

IMPROVEMENT OF SYMPATHETIC SKIN RESPONSES AFTER ENZYME REPLACEMENT THERAPY IN FABRY DISEASE

55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS

Cristina Brinckmann De Oliveira NETTO; L B JARDIM; J BECKER; D NORA; Ursula MATTE et al

2005 Trabalho em evento
HS Endocrinology; Diabetes and Metabolism

KIDNEY FUNCTION EVALUATION AFTER 24-MONTHS OF ENZYME REPLACEMENT THERAPY FOR FABRY DISEASE

55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS

E BARROS; Cristina Brinckmann De Oliveira NETTO; C CECCHIN; M BURIN; S BRUSTOLIN et al

2005 Trabalho em evento
LS Genetics

NONVIRAL GENE TRANSFER IN THE MUCOPOLYSACCHARIDOSIS I MURINE MODEL

55TH ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS

Ursula MATTE; M CAMASSOLA; L M BRAGA; A D CANEDO; T P DALBERTO et al

2005 Trabalho em evento
HS Genetics (clinical)

ESTUDIOS DE PARAMETROS BIOQUÍMICOS DE LA ENZIMA CHITOTRIOSIDASA EN INDIVIDUOS NORMALES Y EN PACIENTES CON GANGLIOSIDOSIS GM1

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

Alessandro WAJNER; Kristiane MICHELIN; M G BURIN; R F PIRES; Roberto GIUGLIANI et al

2005 Trabalho em evento
HS Pediatrics; Perinatology and Child Health

A RANDOMIZED; DOUBLE-BLIND; PLACEBO-CONTROLLED; MULTICENTER; MULTINATIONAL CLINICAL STUDY (PHASE III) OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4 SULFATASE (RHASB) IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

Roberto GIUGLIANI; Ida Vanessa SCHWARTZ; Ana Cecília AZEVEDO; L KALAKUN; Taiane Alves VIEIRA et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

DIAGNOSIS OF MITOCHONDRIAL DISORDERS: APLLICATION OF A DNA-BASED PROTOCOL IN SELECTED PATIENTS

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

C SOUZA; L LAYBAUER; N COPETTI; B CRUZ; M CERSKI et al

2005 Trabalho em evento
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

ENZYME ACTIVITIES IN DRIED-BLOOD FILTER PAPER SAMPLES FROM PATIENTS WITH SELECTED INHERITED LYSOSOMAL STORAGE DISEASES

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

G CIVALLERO; Jurema Fátima De MARI; Marli Viapiana CAMELIER; Maira Graeff BURIN; Janice Carneiro COELHO et al

2005 Trabalho em evento
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

SCREENING FOR NIEMANN-PICK DISEASE IN DRIED-BLOOD FILTER PAPER IN BRAZIL

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

Janice Carneiro COELHO; M G BURIN; Marli Viapiana CAMELIER; Kristiane MICHELIN; Roberto GIUGLIANI et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

SERVICE OF INFORMATION ON INBORN ERRORS OF METABOLISM (SIEM): RESULTS OF THE FIRST 3 YEARS OF A PIONEERING SERVICE IN BRAZIL

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

S BRUSTOLIN; C M SOUZA; A B DETANICO; L REFOSCO; Ricardo Flores PIRES et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

TERAPIA DE REMPLAZO ENZIMATICO: PRIMER REPORTE EN UN PACIENTE CON MUCOPOLISACARIDOSIS I Y COMPRESIÓN MEDULAR

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

Roberto GIUGLIANI; M V MUNOZ; P DICKSON; Taiane Alves VIEIRA; R COSTA et al

2005 Trabalho em evento
LS Genetics

FABRY`S DISEASE AND HAEMODIALYSIS: DETERMINING A PROCEDURE FOR BLOOD COLLECTING ON A BRAZILIAN SCREENING

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

A C F NUNES; A DELGADO; V DELGADO; D B PORSCH; V MILANI et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

INVESTIGATION OF INHERITED METABOLIC DISORDERS IN 700 HIGH-RISK PATIENTS: A STUDY IN STATE OF PARÁ (NORTH BRAZIL)

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

N CASTRO; E SOUZA; L CUNHA; P FEIO; E ALVES et al

2005 Trabalho em evento
LS Genetics

IMPROVEMENT OF SYMPATHETIC SKIN RESPONSES AFTER ENZYME REPLACEMENT THERAPY IN FABRY DISEASE

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

L JARDIM; J BECKER; Cristina Brinckmann De Oliveira NETTO; D NORA; Ursula MATTE et al

2005 Trabalho em evento
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

PRELIMINAR RESULTS OF SCREENING FOR FABRY DISEASE USING DRIED BLOOD SPOTS ON FILTER PAPER

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

M TSAO; M BURIN; A NUNES; E BARROS; F PEREIRA et al

2005 Trabalho em evento
LS Genetics

KIDNEY FUNCTION EVALUATION AFTER 24-MONTHS OF ENZYME REPLACEMENT THERAPY FOR FABRY DISEASE

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

Cristina Brinckmann De Oliveira NETTO; C CECCHIN; M BURIN; Ursula MATTE; S BRUSTOLIN et al

2005 Trabalho em evento
LS Genetics

CNS INVOLVEMENT IN FABRY`S DISEASE: AN IMAGE STUDY DURING 24 MONTHS OF ERT

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

L JARDIM; E AESSE; L VEDOLIN; C PITTAPINHEIRO; J MARCONATO et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

ASSESSMENT OF ANEMIA IN 20 SOUTH-AMERICAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II ON ENZYME REPLACEMENT THERAPY

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

A PUGA; Louise Lapagesse De Camargo PINTO; María Verónica Rojas MUNOZ; Roberto GIUGLIANI

2005 Trabalho em evento
HS Medicine (miscellaneous)

THE WORK OF A NGO INSTITUTO CANGURU IN BRAZIL; WITH INHERITED METABOLIC DISEASE

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

C MICHELETTI; R B OLIVEIRA; S ARAUJO; A FONSECA; VIEIRA et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

DETECTION OF 24-BP DUPLICATION IN THE CHITOTRIOSIDASE GENE BY REAL TIME PCR: FREQUENCY IN THE BRAZILIAN POPULATION

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

H BOCK; Kristiane MICHELIN; Alessandro WAJNER; Roberto GIUGLIANI; R F PIRES et al

2005 Trabalho em evento
LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

METACHROMATIC LEUKODISTROPHY: APLICATION OF REAL TIME PCR FOR DETECTING COMMON MUTATIONS IN BRAZILIAN PATIENTS

CONGRESO LATINOAMERICANO DE ERRORES INNATOS DEL METABOLISMO Y PESQUISA NEONATAL

H BOCK; Jurema Fátima De MARI; M G BURIN; Ursula MATTE; Roberto GIUGLIANI et al

2005 Trabalho em evento
HS Medicine (miscellaneous)

OVERVIEW AND DIFFERENTIAL DIAGNOSIS FOR MPS I

X SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL

Roberto GIUGLIANI

2005 Trabalho em evento
HS Medicine (miscellaneous)

EVALUATION AND IDENTIFICATION OF ORAL; MAXILLOFACIAL; AND OFTALMOLOGICAL CHANGES IN PATIENTS WITH MUCOPOLYSACCHARIDOSES

X SIMPOSIO LATINOAMERICANO DE ENFERMEDADES DE DEPÓSITO LISOSOMAL

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