| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort
|
Froissart, Roseline
|
|
|
145 |
1 |
p.
|
article
|
| 2 |
Argentine program of home infusions with enzyme replacement therapy for lysosomal diseases: Results in safety, quality of life and adherence
|
Drelichman, Guillermo
|
|
|
145 |
1 |
p.
|
article
|
| 3 |
Challenges in Gaucher disease: Perspectives from an expert panel
|
Grabowski, Gregory A.
|
|
|
145 |
1 |
p.
|
article
|
| 4 |
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated
|
Peacock, Dakota J.S.J.
|
|
|
145 |
1 |
p.
|
article
|
| 5 |
Corrigendum to “Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction” [Molecular Genetics and Metabolism 144 (2025); 109049]
|
Belle, Kinsley
|
|
|
145 |
1 |
p.
|
article
|
| 6 |
Corrigendum to “Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients” [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].
|
Kolstad, Josephine
|
|
|
145 |
1 |
p.
|
article
|
| 7 |
Corrigendum to “The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial” [Molecular Genetics and Metabolism Volume 143, Issue 4, December 2024, 108607]
|
Pinto, Alex
|
|
|
145 |
1 |
p.
|
article
|
| 8 |
Cover 2 / Ed. Board
|
|
|
|
145 |
1 |
p.
|
article
|
| 9 |
Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B
|
Selvanathan, A.
|
|
|
145 |
1 |
p.
|
article
|
| 10 |
Efficacy and safety of Nitisinone for patients with alkaptonuria: A systematic review with metanalysis
|
Mayrink, Flávia Diniz
|
|
|
145 |
1 |
p.
|
article
|
| 11 |
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing
|
Pan, Yinghong
|
|
|
145 |
1 |
p.
|
article
|
| 12 |
Extracellular chaperones in lysosomal storage diseases
|
İnci, Aslı
|
|
|
145 |
1 |
p.
|
article
|
| 13 |
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes
|
Verberkmoes, Sanne
|
|
|
145 |
1 |
p.
|
article
|
| 14 |
Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two ‘unusual’ phenylketonuria patients
|
van Steenis, E.M.
|
|
|
145 |
1 |
p.
|
article
|
| 15 |
Letter to the editor: SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient
|
Trujillo, Ileana
|
|
|
145 |
1 |
p.
|
article
|
| 16 |
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease
|
Shammas, Hadeel
|
|
|
145 |
1 |
p.
|
article
|
| 17 |
Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol
|
Crenshaw, M.M.
|
|
|
145 |
1 |
p.
|
article
|
| 18 |
Recruitment through empathy and education: The role of the clinical experience on workforce development
|
Achanta, Rishisree
|
|
|
145 |
1 |
p.
|
article
|
| 19 |
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency
|
Silverstein, Sarah
|
|
|
145 |
1 |
p.
|
article
|
| 20 |
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension
|
Ramaswami, Uma
|
|
|
145 |
1 |
p.
|
article
|
| 21 |
The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria
|
Manti, Filippo
|
|
|
145 |
1 |
p.
|
article
|
| 22 |
The role of large language models in medical genetics
|
Merdler-Rabinowicz, Rona
|
|
|
145 |
1 |
p.
|
article
|
| 23 |
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders
|
Cheung, Anthony C.T.
|
|
|
145 |
1 |
p.
|
article
|
Journal description