Results 121 to 130 of about 11,583 (212)

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

open access: yesJIMD Rep
Fiori L   +19 more
europepmc   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]

open access: yesJ Inherit Metab Dis
Hiwot T   +33 more
europepmc   +1 more source

Observations on the Cerebrospinal Fluid in Infantile Diarrhea

open access: yes, 1952
NllLO HALLMAN, HILKKA TÄHKÄ
core   +1 more source

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment. [PDF]

open access: yesFront Med (Lausanne)
Nuzhnaya E   +14 more
europepmc   +1 more source

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