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Publications by Maria Laura Ricardo-Silgado

Fructosuria and Recurrent Hypoglycemia in a Patient With a Novel C.1693T>A Variant in the 3′ Untranslated Region of the Aldolase B Gene

SAGE Open Medical Case Reports

2019

English

Related publications

Identification of a Novel Mutation in the Β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male With a Heterozygous Β-Thalassemia Phenotype

Hemoglobin

Biochemistry

Genetics

Clinical Biochemistry

Hematology

2012

English

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

Frontiers in Pediatrics

English

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

English

KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)

Human Genome Variation

English

A Functional Splice Site in the 5' Untranslated Region of a Zein Gene

Nucleic Acids Research

Genetics

1990

English

A Novel APOC2 Gene Mutation Identified in a Chinese Patient With Severe Hypertriglyceridemia and Recurrent Pancreatitis

Lipids in Health and Disease

Biochemistry

Endocrinology

Clinical Biochemistry

Metabolism

Diabetes

2016

English

Identification of a Novel Mutation of the PRKAR1A Gene in a Patient With Carney Complex With Significant Osteoporosis and Recurrent Fractures

English

Successful Treatment of Recurrent Hypoglycemia by Pioglitazone in a Patient With Myotonic Dystrophy

Clinical Neurology

Neurology

2009

English

3′ Untranslated Region A>C (Rs3212227) Polymorphism of Interleukin 12B Gene as a Potential Risk Factor for Hodgkin’s Lymphoma in Brazilian Children and Adolescents

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Maria Laura Ricardo-Silgado

Fructosuria and Recurrent Hypoglycemia in a Patient With a Novel C.1693T>A Variant in the 3′ Untranslated Region of the Aldolase B Gene

Related publications

Identification of a Novel Mutation in the Β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male With a Heterozygous Β-Thalassemia Phenotype

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)

A Functional Splice Site in the 5' Untranslated Region of a Zein Gene

A Novel APOC2 Gene Mutation Identified in a Chinese Patient With Severe Hypertriglyceridemia and Recurrent Pancreatitis

Identification of a Novel Mutation of the PRKAR1A Gene in a Patient With Carney Complex With Significant Osteoporosis and Recurrent Fractures

Successful Treatment of Recurrent Hypoglycemia by Pioglitazone in a Patient With Myotonic Dystrophy

3′ Untranslated Region A>C (Rs3212227) Polymorphism of Interleukin 12B Gene as a Potential Risk Factor for Hodgkin’s Lymphoma in Brazilian Children and Adolescents