Publications

Curated collection of key studies

Browse a curated collection of key studies on rare pediatric diseases, each distilled into a clear, clinically focused summary. Get the essentials on early signs, diagnosis, and treatment — without the deep dive — so you can bring the latest evidence straight into practice.

Why should rheumatologists be aware of the mucopolysaccharidoses?

MPS often presents with joint and bone issues early. Rheumatologists play a key role in spotting signs and guiding timely diagnosis and care.

Rheumatology (Oxford University Press), Volume 50, Issue suppl_5, December 2011, Pages v1–v3.

The new frame for Mucopolysaccharidoses

Managing MPS requires multidisciplinary care and training. Though not exhaustive, this issue aims to support clinicians in diagnosis and patient care.

Italian Journal of Pediatrics (BioMed Central), Volume 44, Issue S2, November 2018.

Orthopaedic challenges for mucopolysaccharidoses

Orthopaedic issues are common in all MPS types, with spine deformities, joint stiffness, and cervical instability requiring careful evaluation and care.

Italian Journal of Pediatrics (BioMed Central), Volume 44, Issue S2, November 2018.

Open issues in Mucopolysaccharidosis type I-Hurler

Early MPS I-H diagnosis is key, but predicting phenotype and treatment needs remains a challenge. Newborn screening shows promise but needs refinement.

Orphanet Journal of Rare Diseases (BioMed Central), Volume 12, Issue 1, June 2017.

Musculoskeletal manifestations of lysosomal storage disorders

Attenuated LSDs are often misdiagnosed. Early recognition—especially by rheumatologists—is key to timely treatment and preventing irreversible damage.

Annals of the Rheumatic Diseases (BMJ), Volume 68, Issue 11, November 2009, Pages 1659–1665.

Mucopolysaccharidosis Type I

Despite major advances in MPS I diagnosis and treatment, challenges remain—especially in addressing CNS, skeletal, cardiac, and ocular complications.

Diagnostics (MDPI), Volume 10, Issue 3, March 2020, Article 161.

Mucopolysaccharidoses: early diagnostic signs in infants and children

Early signs of severe MPS are often missed. Raising awareness among pediatricians can speed diagnosis and improve outcomes with timely treatment.

Italian Journal of Pediatrics (BioMed Central), Volume 44, Issue S2, November 2018.

Improvement in time to treatment, but not time to diagnosis in patients with mucopolysaccharidosis type I

Study shows faster treatment starts for attenuated MPS I over 15 years, but diagnosis age remains unchanged—highlighting need for earlier detection.

Archives of Disease in Childhood (BMJ), Volume 106, Issue 7, 2021, Pages 674–679.

ENT and Mucopolysaccharidoses

Early ENT symptoms like hearing loss are common in MPS. Prompt diagnosis and regular follow-up are key to improving patients’ quality of life.

Italian Journal of Pediatrics (BioMed Central), Volume 44, Issue S2, November 2018.

Smell and taste disorders in children with MPS

Smell and taste are mostly unaffected in MPS patients, though GAG buildup suggests possible impact. More studies are needed, especially in younger cases.

Laryngo-Rhino-Otologie (Thieme), Volume 98, Issue S 02, April 2019, Pages S335–S336.

Short stature as a symptom of attenuated MPS I

MPS I may go undiagnosed for years when presenting as short stature. Greater awareness can lead to earlier diagnosis and reduced disease burden.

BMC Endocrine Disorders (BioMed Central), Volume 18, Issue 1, November 2018.

Otolaryngologists' role in early MPS diagnosis

Most MPS patients show ENT symptoms early, yet diagnosis is often missed. Raising awareness among ENT doctors could lead to earlier, life-improving care.

Diagnostics (MDPI), Volume 9, Issue 4, November 2019, Article 187.

Mucopolysaccharidosis in Southern and Eastern Europe

Study highlights progress and challenges in MPS IVA care in Southern and Eastern Europe, stressing treatment access and need for specialist training.

Orphanet Journal of Rare Diseases (BioMed Central), Volume 17, Issue 1, March 2022.

Hip morphology in children with MPS I and II

Hip deformities are common in MPS I and II, but progression varies. Some cases may not need surgery, allowing for tailored, long-term treatment planning.

Journal of Pediatric Orthopaedics (Wolters Kluwer), Volume 36, Issue 4, June 2016, Pages 370–375.

Height, weight and BMI in Taiwanese MPS patients

Growth slows significantly over time in MPS patients, especially MPS IVA. Early tracking may aid diagnosis and timely care to improve life quality.

Diagnostics (MDPI), Volume 9, Issue 4, October 2019, Article 148.

Growth patterns in MPS I and II children

Growth patterns in MPS I and II vary by severity. Early growth is normal, but declines after 30 months, aiding diagnosis and therapy evaluation.

World Journal of Pediatrics (Springer), Volume 11, Issue 3, 2015, Pages 226–231.

Growth impairment review in mucopolysaccharidoses

Untreated MPS causes severe skeletal issues and growth impairment due to GAG buildup, greatly reducing quality of life and daily functioning.

Molecular Genetics and Metabolism (Elsevier), Volume 124, Issue 1, May 2018, Pages 1–10.

Genotype-phenotype insights in MPS I from the International Registry

Study confirms that severe MPS I is linked to two null IDUA variants, while attenuated forms always carry at least one milder mutation.

Clinical Genetics (Wiley), Volume 96, Issue 4, July 2019, Pages 281–289.

Faster MPS I diagnosis with an easy-to-use algorithm

An expert-designed algorithm helps detect MPS I earlier by flagging key signs like kyphosis and joint stiffness, enabling faster diagnosis and treatment.

Acta Paediatrica (Wiley), Volume 107, Issue 8, July 2018, Pages 1402–1408.

ENT manifestations in 61 patients with mucopolysaccharidosis

ENT symptoms often precede MPS diagnosis. Study shows early ENT issues in MPS patients, highlighting ENT’s key role in early detection and care.

International Journal of Pediatric Otorhinolaryngology (Elsevier), Volume 135, August 2020, Article 110137.

Clinical hints for diagnosing attenuated MPS forms

Attenuated MPS forms are hard to spot early. A structured checklist may help detect key signs faster and enable timely specialist referral and treatment.

Italian Journal of Pediatrics (BioMed Central), Volume 44, Issue S2, November 2018.

Advances in gene therapy for MLD and MPS I

Gene therapy using modified stem cells offers promising results for MLD and MPS I, potentially overcoming limits of ERT and HSCT, especially in the CNS.

Journal of Inherited Metabolic Disease (Springer), Volume 40, Issue 4, May 2017, Pages 543–554.

Tutorial in Italian with English captions: La diagnosi precoce della leucodistrofia metacromatica: aspetti clinici e neurofisiologici

Video tutorial sulla diagnosi precoce della leucodistrofia metacromatica, con focus su segni clinici e neurofisiologici e sul corretto percorso diagnostico.

Metachromatic leukodystrophy and transplantation

In MLD, stem cell transplants may enable brain remyelination via donor macrophages, though no cross-correction of glial cells was observed.

Annals of Clinical and Translational Neurology (Wiley), Volume 7, Issue 2, January 2020, Pages 169–180.

Leukodystrophies: a proposed classification system

A new leukodystrophy classification focuses on which white matter cell types are affected, aiding diagnosis and guiding future treatment strategies.

Acta Neuropathologica (Springer), Volume 134, Issue 3, September 2017, Pages 351–382.

Peripheral neuropathy in metachromatic leukodystrophy

Peripheral neuropathy in MLD remains poorly addressed by HCT. Future therapies must better target nerve damage, pain, and neuroinflammation.

Orphanet Journal of Rare Diseases (BioMed Central), Volume 14, Issue 1, November 2019.

Newborn screening for MLD. European recommendations

Experts agree on key steps for managing newborns with MLD, highlighting early treatment, monitoring, and the vital role of patient-family communication.

European Journal of Paediatric Neurology (Elsevier), Volume 49, March 2024, Pages 141–154.

Leukodystrophies in children. Diagnosis and treatment approaches

Leukodystrophies are severe genetic CNS disorders. Early diagnosis and care are key, with newborn screening and emerging therapies offering new hope.

Pediatrics (American Academy of Pediatrics), Volume 148, Issue 3, September 2021.

Gene therapy progress for metachromatic leukodystrophy

Gene therapy using AAV vectors shows strong potential for treating MLD by delivering sustained ARSA expression in the CNS with a favorable safety profile.

Journal of Neuroscience Research (Wiley), Volume 94, Issue 11, September 2016, Pages 1169–1179.

Effectiveness and safety of MLD treatments in children

Systematic review finds arsa-cel offers better outcomes than HSCT or natural history in LI and EJ MLD patients, preserving function and improving survival.

Orphanet Journal of Rare Diseases (BioMed Central), Volume 18, Issue 1, August 2023.

Early paralytic strabismus in toddlers. Sign of late-infantile MLD

Acute paralytic strabismus in toddlers may signal early late-infantile MLD. MRI with contrast can support rapid diagnosis before motor decline begins.

European Journal of Paediatric Neurology (Elsevier), Volume 37, March 2022, Pages 87–93.

Diagnosis and treatment approaches for metachromatic leukodystrophy

MLD stems from ARSA or SapB deficiency. Current treatments are limited, but gene and stem cell therapies show promise for future disease management.

Frontiers in Medicine (Frontiers), Volume 7, October 2020.

Advances in gene therapy for MLD and MPS I

Gene therapy using modified stem cells offers promising results for MLD and MPS I, potentially overcoming limits of ERT and HSCT, especially in the CNS.

Journal of Inherited Metabolic Disease (Springer), Volume 40, Issue 4, May 2017, Pages 543–554.

Velmanase alfa vs transplant in moderate alpha-mannosidosis

Velmanase alfa is not cost-effective for alpha-mannosidosis under current thresholds. Broader criteria may be needed to fund orphan drug therapies fairly.

Biotechnology & Biotechnological Equipment (Taylor & Francis), Volume 37, Issue 1, March 2023.

Velmanase alfa treatment. Efficacy and safety in alpha-mannosidosis

Velmanase alfa significantly reduces oligosaccharides in AM. Benefits increase over time, especially when treatment starts in childhood.

Journal of Inherited Metabolic Disease (Springer), Volume 41, Issue 6, May 2018, Pages 1215–1223.

Velmanase alfa safety and efficacy in children under 6

Early velmanase alfa treatment in children under 6 with alpha-mannosidosis is safe, well tolerated, and shows potential clinical and quality of life benefits.

Journal of Inherited Metabolic Disease (Wiley), Volume 46, Issue 4, March 2023, Pages 705–719.

Velmanase alfa response model and outcomes in alpha-mannosidosis

Velmanase alfa shows strong clinical benefit in alpha-mannosidosis, with most patients responding—especially children—supporting early, long-term treatment.

Molecular Genetics and Metabolism (Elsevier), Volume 124, Issue 2, June 2018, Pages 152–160.

Recognizing alpha-mannosidosis in paediatric and adult patients

New diagnostic algorithms for alpha-mannosidosis help clinicians detect the disease earlier in children and adults, enabling timely treatment initiation.

Molecular Genetics and Metabolism (Elsevier), Volume 126, Issue 4, April 2019, Pages 470–474.

Neurocognitive dysfunction and psychosis in alpha-mannosidosis

Neurocognitive decline in Alpha-Mannosidosis may stem from synaptic defects. Understanding these pathways could guide better-targeted therapies.

Journal of Translational Genetics and Genomics (OAE Publishing), Volume 8, Issue 2, March 2024, Pages 85–101.

Long-term enzyme therapy benefits in alpha-mannosidosis

Long-term velmanase alfa therapy in alpha-mannosidosis improves quality of life, reducing disability and pain, with benefits shown up to 48 months.

Journal of Inborn Errors of Metabolism and Screening (SAGE), Volume 6, 2018.

Long-term efficacy of velmanase alfa in alpha-mannosidosis

Velmanase alfa shows lasting biochemical and motor improvements in alpha-mannosidosis over 4 years, with better outcomes when started in childhood.

Journal of Inherited Metabolic Disease (Springer), Volume 41, Issue 6, May 2018, Pages 1225–1233.

Genotype, antibodies and velmanase alfa long-term outcomes

Some AM patients on velmanase alfa develop ADAs, mostly in G1/G2 genotypes, but ADAs show minimal impact on treatment efficacy and clinical outcomes.

JIMD Reports (Wiley), Volume 64, Issue 2, March 2023, Pages 187–198.

Brain MRI hallmarks in alpha-mannosidosis

White matter changes and cerebellar atrophy are key MRI features in alpha-mannosidosis, aiding early diagnosis and monitoring of neurological progression.

Molecular Genetics and Metabolism (Elsevier), Volume 132, Issue 3, March 2021, Pages 189–197.

BOT-2 test for enzyme therapy efficacy in alpha-mannosidosis

Velmanase alfa improves motor skills in children with alpha-mannosidosis, as shown by BOT-2 testing, supporting its role in enhancing daily function and QoL.

Molecular Genetics and Metabolism Reports (Elsevier), Volume 23, June 2020, Article 100586.

Alpha-mannosidosis enzyme therapy: 12-month follow-up study

12-month ERT with rhLAMAN in alpha-mannosidosis showed improved motor and cognitive outcomes, with reduced biomarkers and oligosaccharide levels.

Journal of Inherited Metabolic Disease (Springer), Volume 36, Issue 6, November 2013, Pages 1015–1024.

Alpha-Mannosidosis: A rarely diagnosed MPS-like disease

Alpha-mannosidosis mimics MPS and is underdiagnosed. Screening MPS-like cases can reveal hidden AM cases, supporting broader diagnostic awareness.

Molecular Genetics and Metabolism (Elsevier), Volume 130, Issue 2, June 2020, Pages 149–152.

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