Table 1 Pre-HSCT evaluation in patients with mucopolysaccharidosis type I-H.

Age at diagnosis in months (median, IQR), n = 49	10 (7–14)	Brain MRI abnormalities (n, %)
Sex ratio F:M, n = 51	2: 3	Lateral ventricles enlargement^b	20/40 (50%)
Clinical features (n, %)		WMH or delayed myelination	21/40 (53%)
Typical coarse facial features	47/47 (100%)	Virchow - Robin spaces enlargement	28/35 (80%)
Macrocrania	34/43 (79%)	IDUA gene molecular analysis (n, %), n = 102 alleles
Thoracolumbar kyphosis	41/44 (93%)	p.Trp402* allele	57/102 (56%)
Airway obstruction^a	38/41 (93%)	p.Gln70* allele	11/102 (11%)
Umbilical or inguinal hernia	23/41 (56%)	Other nonsense alleles^c	5/102 (5%)
Hepatomegaly	37/42 (88%)	Indels or splicing alleles^c	11/102 (11%)
Splenomegaly	17/42 (40%)	Missense alleles^c	13/102 (12%)
Corneal clouding	29/41 (71%)	Other alleles^c (non p.Trp402/non p.Gln70)	5/102 (5%)
Active hydrocephalus and/or VP shunt^b	9/51 (18%)

HSCT Haematopoietic stem cell transplantation, IQR Interquartile range, MRI Magnetic resonance imaging, VP Ventriculoperitoneal shunt, WMH White matter hyperintensities.
^aAirway obstruction defined as chronic rhinopharyngitis or sleep apnea syndrome.
^bHydrocephalus is defined as an enlargement of the brain ventricles with signs of transependymal resorption on brain MRI or need for a ventriculoperitoneal shunt. Lateral ventricle enlargement includes patients with active hydrocephalus.
^cNonsense allele = p.(Arg615*)(n = 3), p.(Trp175*)(n = 1), p.(Arg628*)(n = 1); Indels/splice alleles = c.398_403del (n = 2), c.46_57del (n = 3), c.209del (n = 1), c.1695_1705del (n = 1), c.580_589 + 36del (n = 1), c.972 + 1 G > A (n = 1), c.386-2 A > G (n = 1), c.50_61del (n = 1); Missense allele = p.(Pro533Arg)(n = 5), p.(Ala327Pro)(n = 2), p.(Met504Arg)(n = 2), p.(Thr388Arg)(n = 1), p.(Met1Leu)(n = 1), p.(Ser433Arg)(n = 1), p.(Gly51Asp)(n = 1); Non p.(Trp402*)/p.(Gln70*): only p.(Trp402*) and p.(Gln70*) have been excluded. Reference sequence: NM_000203.5.

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