Mario Mastrangelo

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello et autres

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms. …

it, ch, ca, us (code pays fourni par la source)

EPILESSIA E MOVIMENTO: TRA BASI COMUNI E NUOVE FRONTIERE TERAPEUTICHE

Mario Mastrangelo

Fenotipo epilettico nella sindrome ReNU: caso paradigmatico di un nuovo modello patogenetico per le epilessie associate a disabilita intellettiva

Mario Mastrangelo, Giuliana Lentini, Elisa Maria Colacino Cinnante, Anna Laura Torella et autres

Introduzione La sindrome ReNU (MIM#620851) è una condizione recentemente descritta a trasmissione autosomico dominante dovuta a varianti patogenetiche del gene RNU4-2 (non codificante per proteine ma per l’RNA nucleare U4, una parte critica dello spliceosoma principale coinvolto nello splicing pre-mRNA degli introni …

Additional file 3: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Tessa Wassenberg, Marta Molero-Luís, Kathrin Jeltsch, Georg Hoffmann et autres

AADCD Emergency card. (DOCX 16 kb)

Additional file 3: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Tessa Wassenberg, Marta Molero-Luís, Kathrin Jeltsch, Georg Hoffmann et autres

AADCD Emergency card. (DOCX 16 kb)

Additional file 1: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Tessa Wassenberg, Marta Molero-Luís, Kathrin Jeltsch, Georg Hoffmann et autres

List of Key Questions. (DOCX 28 kb)

Additional file 1: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Tessa Wassenberg, Marta Molero-Luís, Kathrin Jeltsch, Georg Hoffmann et autres

List of Key Questions. (DOCX 28 kb)

Formation of Oligosaccharides and Polysaccharides by Lactobacillus reuteri LTH5448 and Weissella cibaria 10M in Sorghum Sourdoughs

Clarissa Schwab, Mario Mastrangelo, Aldo Corsetti, Michael G. Gänzle

ABSTRACT Gluten‐free breads, which are composed of gluten‐free flours, starch, and hydrocolloids, differ from wheat and rye breads in relation to texture, volume, and crumb structure. Moreover, the dietary fiber content is lower compared with wheat or rye breads. Cereal isolates of …

ca, it (code pays fourni par la source)

Raw milk traditional Italian ewe cheeses as a source of Lactobacillus casei strains with acid-bile resistance and antigenotoxic properties

Aldo Corsetti, Giovanna Caldini, Mario Mastrangelo, Francesca Trotta et autres

it (code pays fourni par la source)

A taxonomic survey of lactic acid bacteria isolated from wheat (Triticum durum) kernels and non-conventional flours

Aldo Corsetti, Luca Settanni, Clemencia Chaves‐López, Giovanna E. Felis et autres

it (code pays fourni par la source)

Identification of subdominant sourdough lactic acid bacteria and their evolution during laboratory-scale fermentations

Aldo Corsetti, Luca Settanni, Sara Valmorri, Mario Mastrangelo et autres

it (code pays fourni par la source)

Microbial biodiversity as related to some cheese productions of the Umbria region: Pecorino cheese and Fior di Latte mozzarella cheese [Italy]

Jone Rossi, Ombretta Massitti, Luca Settanni, Mario Mastrangelo et autres