Fabio Sirchia Selected Research

French Canadian type Leigh syndrome

9/2020

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.

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Fabio Sirchia Research Topics

Disease

1	Infertility (Sterility) 05/2022
1	Hypertrophy 01/2022
1	Facies 01/2022
1	Simpson-Golabi-Behmel syndrome 01/2022
1	Splenomegaly 01/2022
1	Disorders of Sex Development (Intersexuality) 01/2022
1	Amenorrhea 01/2022
1	Hirsutism 01/2022
1	Polyhydramnios 01/2022
1	Coloboma (Colobomas) 01/2022
1	Neoplasms (Cancer) 01/2022
1	Gonadal Dysgenesis (Gonadal Agenesis) 01/2022
1	Hypospadias 01/2022
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 08/2021
1	Ataxia (Dyssynergia) 08/2021
1	Atrophy 08/2021
1	Cerebellar Diseases (Cerebellar Syndrome) 08/2021
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2021
1	Osteopathia striata cranial sclerosis 01/2021
1	Muscle Hypotonia (Hypotonia) 09/2020
1	French Canadian type Leigh syndrome 09/2020
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2020
1	Neuralgia (Stump Neuralgia) 01/2020
1	Macroglossia 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Fructose Intolerance (Intolerance, Fructose) 01/2019
1	Nausea 01/2019
1	Hyperinsulinism (Hyperinsulinemia) 01/2019
1	Azoospermia 01/2019
1	Scoliosis 01/2019
1	Vomiting 01/2019
1	HEM dysplasia 01/2019
1	Renal Insufficiency (Renal Failure) 01/2019
1	Urolithiasis 01/2019
1	Hypoglycemia (Reactive Hypoglycemia) 01/2019
1	Diabetes Mellitus 01/2019
1	Cryptorchidism (Undescended Testes) 01/2019
1	Asphyxia (Suffocation) 01/2019
1	Acute Intermittent Porphyria (Porphyria, Acute) 01/2018
1	Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency) 01/2018
1	Keratoconus 04/2017

Drug/Important Bio-Agent (IBA)

1	Hormones (Hormone)IBA 05/2022
1	GlypicansIBA 01/2022
1	Retinaldehyde (Retinal)IBA 01/2022
1	AndrogensIBA 01/2022
1	LH Receptors (LH Receptor)IBA 01/2022
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	A 17 (A-17)IBA 01/2022
1	Congenital disorder of glycosylation type 1AIBA 08/2021
1	Biological ProductsIBA 01/2021
1	Leucine (L-Leucine)FDA Link 09/2020
1	Gabapentin (Neurontin)FDA LinkGeneric 01/2020
1	FructoseIBA 01/2019
1	EnzymesIBA 01/2019
1	Fructose-Bisphosphate Aldolase (Aldolase)IBA 01/2019
1	Lamin B ReceptorIBA 01/2019
1	Sucrose (Saccharose)IBA 01/2019
1	Aminolevulinic Acid (Levulan)FDA Link 01/2018
1	Heme (Haem)IBA 01/2018
1	PorphobilinogenIBA 01/2018
1	protoporphyrinogen (protoporphyrinogen IX)IBA 01/2018
1	MicroRNAs (MicroRNA)IBA 04/2017

Therapy/Procedure

1	Activities of Daily Living (ADL) 08/2021
1	Gastrostomy 09/2020
1	Pancreatectomy 01/2019