Federica Buonocore Selected Research

sphingosine 1-phosphate lyase (aldolase)

5/2022	Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
3/2017	Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

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Federica Buonocore Research Topics

Disease

4	Addison Disease (Addison's Disease) 05/2022 - 03/2017
2	Adrenal Insufficiency (Adrenal Gland Hypofunction) 05/2022 - 09/2021
2	Nephrotic Syndrome (Syndrome, Nephrotic) 05/2022 - 03/2017
2	Primary Ovarian Insufficiency 01/2022 - 08/2015
2	Hyperpigmentation 01/2022 - 01/2020
2	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 01/2020 - 01/2019
2	Sphingolipidoses (Sphingolipidosis) 01/2020 - 03/2017
1	Hypothyroidism 01/2022
1	Neoplasms (Cancer) 03/2020
1	Oligospermia (Oligozoospermia) 03/2020
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 03/2020
1	Weight Gain 01/2020
1	Anorchia 01/2020
1	46,XY Gonadal Dysgenesis (Swyer Syndrome) 01/2020
1	Hypoglycemia (Reactive Hypoglycemia) 01/2020
1	Hypotension (Low Blood Pressure) 01/2020
1	Jaundice (Icterus) 01/2020
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 12/2019
1	Habitual Abortion (Recurrent Miscarriage) 01/2019
1	Obesity 03/2018
1	monosomy Chromosome 7 05/2017
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 05/2017
1	Bone Marrow Failure Disorders 05/2017
1	Infections 05/2017
1	Ovotesticular Disorders of Sex Development 01/2016
1	Infertility (Sterility) 08/2015
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 08/2015
1	Hypospadias 08/2015
1	Alzheimer Disease (Alzheimer's Disease) 01/2013

Drug/Important Bio-Agent (IBA)

4	Cholesterol Side-Chain Cleavage Enzyme (CYP11A1)IBA 01/2022 - 01/2019
3	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2013
2	sphingosine 1-phosphate lyase (aldolase)IBA 05/2022 - 03/2017
2	GlucocorticoidsIBA 01/2022 - 01/2020
2	DNA (Deoxyribonucleic Acid)IBA 09/2021 - 01/2019
2	AndrogensIBA 01/2020 - 08/2015
1	6-methyladenineIBA 01/2022
1	Growth Hormone (Somatotropin)IBA 01/2022
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/2022
1	SaltsIBA 01/2020
1	RNA Helicases (RNA Helicase)IBA 01/2020
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2020
1	MineralocorticoidsIBA 01/2020
1	sphingosine 1-phosphate (sphingosine-1-phosphate)IBA 01/2020
1	Oxidoreductases (Dehydrogenase)IBA 12/2019
1	Codon (Codons)IBA 01/2019
1	NucleotidesIBA 01/2019
1	Proliferating Cell Nuclear Antigen (PCNA)IBA 01/2019
1	Pro-Opiomelanocortin (Proopiomelanocortin)IBA 03/2018
1	MelanocortinsIBA 03/2018
1	SphingolipidsIBA 03/2017
1	Transcription Factors (Transcription Factor)IBA 01/2016
1	Amyloid (Amyloid Fibrils)IBA 01/2013
1	Peptides (Polypeptides)IBA 01/2013

Therapy/Procedure

1	Orchiectomy (Orchidectomy) 03/2020